3. Molecular Basis for X-Linked Immunodeficiencies

Advances in Genetics

Volumn 35, Issue C, 1997, Pages

  Smith, C I Edvard ^a   Notarangelo, Luigi D ^b  

^a Center for Biotechnology   (Sweden)

^b UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN M;

AGAMMAGLOBULINEMIA; ANIMAL; ART; ARTICLE; BLOOD; COMBINED IMMUNODEFICIENCY; FEMALE; GENETIC LINKAGE; GENETICS; HISTORY; HUMAN; HYPERGAMMAGLOBULINEMIA; IMMUNE DEFICIENCY; MALE; MOLECULAR CLONING; MUTATION; PHENOTYPE; WISKOTT ALDRICH SYNDROME; X CHROMOSOME;

AGAMMAGLOBULINEMIA; ANIMALS; CLONING, MOLECULAR; FEMALE; HISTORY, 20TH CENTURY; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; IMMUNOLOGIC DEFICIENCY SYNDROMES; LINKAGE (GENETICS); MALE; MUTATION; PHENOTYPE; PORTRAITS; SEVERE COMBINED IMMUNODEFICIENCY; WISKOTT-ALDRICH SYNDROME; X CHROMOSOME;

EID: 0030634220     PISSN: 00652660     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0065-2660(08)60448-4     Document Type: Article

References (443)

1. Adam A., Levin S., Arnon A., Sadan N., and Klajman A. X-linked hypogammaglobulinemia: Additional observations in a previously reported family. Isr. J. Med. Sci. 7 (1971) 1280-1285
2. Aiuti F., Fontana L., and Gatti R.A. Membrane bound immunoglobulin (Ig) and in vitro production of Ig by lymphoid cells from patients with primary immunodeficiencies. Scand. J. Immunol. 2 (1973) 9-16
3. Alderson M.R., Armitage R.J., Tough T.W., Strockbine L., Fanslow W.C., and Spriggs M.K. CD40 expression by human monocytes: Regulation by cytokines and activation of monocytes by the ligand for CD40. J. Exp. Med. 178 (1993) 669-674
4. Aldrich R.A., Steinberg A.G., and Campbell D.C. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13 (1954) 133-139
5. Allen R.C., Armitage R.J., Conley M.E., Rosenblatt H., Jenkins N.A., Copeland N.G., Bedell M.A., Edelhoff S., Disteche C.M., Simoneaux D.K., Fanslow W.C., Belmont J., and Spriggs M.K. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 259 (1993) 990-993
6. Amsbaugh D.F., Hansen C.T., Prescott B., Stashak P.W., Barthold D.R., and Baker P.J. Genetic control of the antibody responsible to type III pneumonococcal polysaccharides in mice. I. Evidence that an X-linked gene plays a decisive role in determining responsiveness. J. Exp. Med. 136 (1972) 931-936
7. Aoki Y., Isselbacher K.J., and Pillai S. Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells. Proc. Natl. Acad. Sci. USA 91 (1994) 10606-10609
8. Armitage R.J., Fanslow W.C., Strockbine L., Sato T.A., Clifford K.N., Macduff B.M., Anderson D.M., Gimpel S.D., Davis-Smith T., Maliszewski C.R., Clark E.A., Smith C.A., Grabstein K.H., Cosman D., and Spriggs M.K. Molecular and biological characterization of a murine ligand for CD40. Nature 357 (1992) 80-82
9. Armitage R.J., Sato T.A., Macduff B.M., Clifford K.N., Alpert A.R., Smith C.A., and Fanslow W.C. Identification of a source of biologically active CD40 ligand. Eur. J. Immunol. 22 (1992) 2071-2076
10. Aruffo A., Farrington M., Hollenbaugh D., Li X., Milatovich A., Nonoyama S., Bajorath J., Grosmarie L.S., Stenkamp R., Neubauer M., Roberts R.L., Noelle R.J., Ledbetter J.A., Francke U., and Ochs H.D. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 72 (1993) 291-300
11. Aspenström P., Linberg U., and Hall A. Two GTPases, Cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome. Curr. Biol. 6 (1996) 70-75
12. Bach F.H., Albertini R.J., Anderson J.T., Joo P., and Bortin M.M. Bone-marrow transplantation in a patient with the Wiskott-Aldrich syndrome. Lancet ii (1968) 1364-1366
13. Bajorath J., Chalupny N.J., Marken J.S., Siadak A.W., Skonier J., Gordon M., Hollenbaugh D., Noelle R.J., Ochs H.D., and Aruffo A. Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction. Biochemistry 34 (1995) 1833-1844
14. Bajorath J., Marken J.S., Chalupny N.J., Spoon T.L., Siadak A.W., Gordon M., Noelle R.J., Hollenbaugh D., and Aruffo A. Analysis of gp39/CD40 interactions using molecular models and site-directed mutagenesis. Biochemistry 34 (1995) 9884-9892
15. Bajorath J., Seyama K., Nonoyama S., v D. Ochs H., and Aruffo A. Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper-IgM syndrome. Prot. Sci. 5 (1996) 531-534
16. Baldini M., Kim B., and Steiner M. Metabolic platelet defect in the Wiskott-Aldrich syndrome. Pediatr. Res. 3 (1969) 377-378
17. Benkerrou M., Gougeon M.L., Griscelli C., and Fischer A. Hypogammaglobulinémie G et A avec hypergammaglobulinémie M. A propos de 12 observations. Arch. Fr. Pediatr. 47 (1990) 345-349
18. Blaese R.M., Culver K.W., Miller A.D., Carter C.S., Fleisher T., Clerici M., Shearer G., Chang L., Chiang Y., Tolstoshev P., Greenblatt J.J., Rosenberg S.A., Klein H., Berger M., Mullen C.A., Ramsey W.J., Muul L., Morgan R.A., and Anderson W.F. T lymphocyte-directed gene therapy for ADA SCID: Initial trial results after 4 years. Science 270 (1995) 475-480
19. Blaese R.M., Strober W., Brown R.S., and Waldmann T.A. The Wiskott-Aldrich syndrome: A disorder with a possible defect in antigen processing or recognition. Lancet i (1968) 1056-1060
20. Blaese R.M., Strober W., Levy A.L., and Waldmann T.A. Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome: A unique disorder of serum protein metabolism. J. Clin. Invest. 50 (1971) 2331-2338
21. Bordignon C., Notarangelo L.D., Nobili N., Ferrari G., Casorati G., Panina P., Mazzolari E., Maggioni D., Rossi C., Servida P., Ugazio A.G., and Mavilio F. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA immunodeficient patients. Science 270 (1995) 470-474
22. Bories J.-C., Willerford D.M., Grévin D., Davidson L., Camus A., Martin P., Stéhelin D., and Alt F.W. Increased T-cell apoptosis and terminal B-cell differentiation induced by the inactivation of the Ets-1 proto-oncogene. Nature 377 (1995) 635-638
23. Bradley L.A.D., Sweatman A.K., Lovering R.C., Jones A.M., Morgan G., Levinsky R.J., and Kinnon C. Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Hum. Mol. Genet. 3 (1994) 79-83
24. Brooks E.G., Schmalsteig F.C., and Wirt P. A novel X-linked combined immunodeficiency disease. J. Clin. Invest. 86 (1990) 1623-1631
25. Bruton O.C. Agammaglobulinemia. Pediatrics 9 (1952) 722-727
26. Bruton O.C. The discovery of agammaglobulinemia. Birth Def. Orig. Art. Ser. 4 (1968) 2-6
27. Bruton O.C., Apt L., Gitlin D., and Janeway C.A. Absence of serum gamma globulins. Am. J. Dis. Child. 84 (1952) 632-636
28. Buckley R.H., Gilbertsen R.B., Schiff R.I., Ferreira E., Sanal S.O., and Waldmann T.A. Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency: Evidence against a stem cell defect. J. Clin. Invest. 58 (1976) 130-136
29. Buckley R.H., Schiff S.E., Sampson H.A., Schiff R.I., Market M.L., Knutsen A.P., Hershfield M.S., Huang A.T., Mickey G.H., and Ward F.E. Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J. Immunol. 136 (1986) 2398-2407
30. Burgio G.R., and Ugazio A.G. Immunodeficiency and syndromes: A nosographic approach. Eur. J. Pediatr. 138 (1982) 288-292
31. Burgio G.R., Ugazio A.G., Notarangelo L.D., and Duse M. The lesson of agammaglobulinemia 40 years after Bruton's discovery. Ann. Allergy 71 (1993) 408-415
32. Burrows P., Lejeune M., and Kerney J.F. Evidence that murine pre-B cells synthesize μ-heavy chains but no light chains. Nature 280 (1979) 838-841
33. Callard R.E., Smith S.H., Herbert J., Morgan G., Padayachee M., Lederman S., Chess L., Kroczek R.A., Fanslow W.C., and Armitage R.A. CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM): Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers. J. Immunol. 153 (1994) 3295-3306
34. Campana D., Farrant J., Inamdar N., Webster A.D.B., and Janossy G. Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia. J. Immunol. 145 (1990) 1675-1680
35. Canales M.L., and Mauer A.M. Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome. N. Engl. J. Med. 277 (1967) 899-901
36. Candotti F., Johnston J.A., Puck J.M., Sugamura K., Shea O.'J.J., and Blaese R.M. Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. Blood 8 (1996) 3097-3102
37. Candotti F., Oakes S.A., Johnston J.A., Notarangelo L.D., Shea O.'J.J., and Blaese R.M. In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. J. Exp. Med. 183 (1996) 2687-2692
38. Cao X., Shores E.W., Hu-Li J., Anver M.R., Kelsall B.L., Russell S.M., Drago J., Noguchi M., Grinberg A., Bloom E.T., Paul W.E., Katz S.I., Love P.E., and Leonard W.J. Defective lymphoid development in mice lacking expression of the common cytokine receptor γ chain. Immunity 2 (1995) 223-238
39. Castigli E., Alt F.W., Davidson L., Bottaro A., Mizoguchi E., Bhan A.K., and Geha R.S. CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation. Proc. Natl. Acad. Sci. USA 91 (1994) 12135-12139
40. Cheng G., Ye Z.-S., and Baltimore D. Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction. Proc. Natl. Acad. Sci. USA 91 (1994) 8152-8155
41. Chiaro J.J., and Dharmkrong-at A. X-linked thrombocytopenia. I. Clinical and genetic studies of a kindred. Am. J. Dis. Child. 123 (1972) 565-568
42. Choi Y.S., Biggar W.D., and Good R.A. Biosynthesis and secretion of immunoglobulins by peripheral-blood lymphocytes in severe hypogamma globulinaemia. Lancet 1 (1972) 1149-1152
43. Chu Y.-W., Marin E., Fuleihan R., Ramesh N., Rosen F.S., Geha R.S., and Insel R.A. Somatic mutation of human immunoglobulin V genes in the X-linked hyperIgM syndrome. J. Clin. Invest. 95 (1995) 1389-1393
44. Claman H.N., Suvatte V., Githens J.H., and Hathaway W.E. Histiocytic reaction in dysgammaglobulinemia and congenital rubella. Pediatrics 46 (1970) 89-96
45. Clark P.A., Lester T., Genet S., Jones A.M., Hendriks R., Levinsky R.J., and Kinnon C. Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2Rγ chain gene by single strand conformation polymorphism analysis. Hum. Gen 96 (1995) 427-432
46. Cohn E.J., Luetscher Jr. J.A., Oncley J.I., Armstrong Jr. S.H., and Davies B.D. Preparation and properties of serum and plasma proteins. III. Size and charge of proteins separating upon equilibration across membranes with ethanol-water mixtures of controlled PH, ionic strength and temperature. J. Am. Chem. Soc. 62 (1940) 3396-3400
47. Cohn J., Hauge M., Andersen V., Kenningsen K., Nielsen L.S., and Iversen T. Sex-linked hereditary thrombocytopenia with immunological defects. Hum. Hered. 25 (1975) 309-317
48. Collins F.S. Positional cloning moves from perditional to traditional. Nat. Genet. 9 (1995) 347-350
49. Conley M.E. B cells in patients with X-linked agammaglobulinemia. J. Immunol. 134 (1985) 3070-3074
50. Conley M.E. X-linked severe combined immunodeficiency. Clin. Immunol. Immunopathol. 61 (1991) S94-S99
51. Conley M.E. Molecular approaches to analysis of X-linked immuno-deficiencies. Annu. Rev. Immunol. 10 (1992) 215-238
52. Conley M.E., Brown P., Pickard A.R., Buckley R.H., Miller D.S., Raskind W.H., Singer J.W., and Fialkow P.J. Expression of the gene defect in X linked agammaglobulinemia. N. Engl. J. Med. 315 (1986) 564-567
53. Conley M.E., Buckley R.H., Hong R., Guerra-Hanson C., Roifman C.M., Brochstein J.A., Pahwa S., and Puck J.M. X-linked severe combined immunodeficiency: Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. J. Clin. Invest. 85 (1990) 1548-1554
54. Conley M.E., Fitch-Hilgenberg M.E., Cleveland J.L., Parolini O., and Rohrer J. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. Hum. Mol. Genet. 3 (1994) 1751-1756
55. Conley M.E., Lavoie A., Briggs C., Brown P., Guerra C., and Puck J.M. Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc. Natl. Acad. Sci. USA 85 (1988) 3090-3094
56. Conley M.E., Nowell P.C., Henle G., and Douglas S.D. XX T cells and XY B cells in two patients with severe combined immune deficiency. Clin. Immunol. Immunopathol. 31 (1984) 87-95
57. Conley M.E., and Puck J.M. Carrier detection in typical and atypical X-linked agammaglobulinemia. J. Pediatr. 112 (1988) 688-694
58. Conley M.E., and Puck J.M. Definition of the gene loci in X-linked immunodeficiencies. Immunol. Invest. 17 (1988) 425-463
59. Conley M.E., Wang W.C., Parolini O., Shapiro D.N., Campana D., and Siminovitch K.A. Atypical Wiskott-Aldrich syndrome in a girl. Blood 80 (1992) 1264-1269
60. Cooper M.D., Chase H.P., Lowman J.T., Krivit W., and Good R.A. Wiskott-Aldrich syndrome: An immunologic deficiency involving the afferent limb of immunity. Am. J. Med. 44 (1968) 499-513
61. Cooper M.D., Faulk W.P., Fudenberg H.H., Good R.A., Hitzig W., Kunkel H.G., Roitt I.M., and Rosen F.S. Meeting report of second international workshop on primary immunodeficiency diseases in man. Clin. Immunol. Immunopathol. 2 (1974) 416-445
62. Cooper M.D., and Lawton A.R. Circulating B-cells in patients with immunodeficiency. Am. J. Pathol. 69 (1972) 513-528
63. Cooper M.D., Tedder T.F., Crain M.J., and Kubagawa H. Antibody deficiency diseases viewed within the context of normal B cell differentiation. In: Griscelli C., and Vossen J. (Eds). Progress in Immunodeficiency Research and Therapy (1984), Elsevier, Amsterdam 113-117
64. Corash L., Shafer B., and Blaese R.M. Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome. Blood 65 (1985) 1439-1443
65. Cory G.O.C., Lovering R.C., Hinshelwood S., MacCarthy-Morrogh L., Levinsky R.J., and Kinnon C. The protein product of the c-cbl proto-oncogene is phosphorylated after B cell receptor stimulation and binds the SH3 domain of Bruton's tyrosine kinase. J. Exp. Med. 182 (1995) 611-615
66. Craig J.M., Gitlin D., and Jewett T.C. The response of lymph nodes of normal and congenitally agammaglobulinemic children in antigenic stimulation. Am. J. Dis. Child. 88 (1954) 626-629
67. Cremin S.M., Greer W.L., Bodock-Nutzati R., Schwartz M., Peacocke M., and Siminovitch K.A. Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP, and TFE3, which map to the Xp11.3-p11.22 region. Hum. Genet. 92 (1993) 250-253
68. Culver K.W., Anderson F.W., and Blaese R.M. Lymphocyte gene therapy. Hum. Gene Ther. 2 (1992) 107-109
69. Danial N.N., Pernis A., and Rothman P.B. Jak-STAT signaling induced by the v-abl oncogene. Science 269 (1995) 1875-1877
70. de la Morena M., Haire R.N., Ohta Y., Nelson R.P., Litman R.T., Day N.K., Good R.A., and Litman G.W. Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. Eur. J. Immunol. 25 (1995) 809-815
71. Derry J.M.J., Ochs H.D., and Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 78 (1994) 635-644 and erratum Cell 79:923.
72. Derry J.M.J., Kerns J.A., Weinberg K.I., Ochs H.D., Volpini V., Estivill X., Walker A.P., and Francke U. WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum. Mol. Genet. 4 (1995) 1127-1135
73. Derry J.M.J., Wiedemann P., Blair P., Wang Y., Kerns Y.A., Lemahieu V., Godfrey V.L., Wilkinson J.E., and Francke U. The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. Genomics 29 (1995) 47-477
74. de Saint Basile G., Fraser N.J., Craig I.W., Arveiler B., Boyd Y., and Griscelli C. Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome. Lancet ii (1989) 1319-1321
75. de SaintLe Basile G., Deist F., Le Caniglia M., Branchu Y., Griscelli C., and Fischer A. Genetic study of a new X-linked recessive immunodeficiency syndrome. J. Clin. Invest. 89 (1992) 861-870
76. de Saint Basile G., Notarangelo L.D., Bonaiti-Pellié C., Doussau M., Parolini O., Craig I.W., Ugazio A., Griscelli C., and Fischer A. Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β. Hum. Genet. 89 (1992) 223-228
77. de Saint Basile G., Schlegel N., Le Caniglia M., Deist F., Kaplan C., Lecompte T., Piller F., Fischer A., and Griscelli C. X-linked thrombocytopenia and Wiskott-Aldrich syndrome: Similar regional assignment but distinct X-inactivation pattern in carriers. Ann. Hematol. 63 (1991) 107-110
78. de Saint Basile G.D., Arveiler B., Oberle I., Malcolm S., Levinsky R.J., Lau Y.L., Hofker M., Debre M., Fischer A., Griscelli C., and Mandel J.L. Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq13. Proc. Natl. Acad. Sci. USA 84 (1987) 7576-7579
79. de Vaal O.M., and Seynhaeve V. Reticular dysgenesia. Lancet 2 (1959) 1123-1125
80. de Weers M., Brouns G.S., Hinshelwood S., Kinnon C., Schuurman R.K.B., Hendriks R.W., and Borst J. B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. J. Biol. Chem. 39 (1994) 23857-23860
81. de Weers M., Mensink R.G.J., Kraakman M.E.M., Schuurman R.K., and Hendriks R.W. Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: Identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. Hum. Mol. Genet. 3 (1994) 161-166
82. de Weers M., Verschuren M.C.M., Kraakman M.E.M., Mensink R.G.J., van Schuurman R.K.B., Dongen J.J.M., and Hendriks R.W. The Bruton's tyrosine kinase gene is expressed throughout B cell differentiation, from early precursor B cell stages preceding immunoglobulin gene rearrangement up to mature B cell stages. Eur. J. Immunol. 23 (1993) 3109-3114
83. DiSanto J.P., Bonnefoy J.Y., Gauchat J.F., Fischer A., and de Saint Basile G. CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM. Nature 361 (1993) 541-543
84. DiSanto J.P., Certain S., Wilson Robson A., MacDonald H., Avner P., Fischer A., and de Saint Basile G. The murine interleukin-2 receptor γ chain gene: Organization, chromosomal localization and expression in the adult thymus. Eur. J. Immunol. 24 (1994) 3014-3018
85. DiSanto J.P., Dautry-Varsat A., Certain S., Fischer A., and de Saint Basile G. Interleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. Eur. J. Immunol. 24 (1994) 475-479
86. DiSanto J.P., Müller W., Guy-Grand D., Fischer A., and Rajewsky K. Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor γ chain. Proc. Natl. Acad. Sci. USA 92 (1995) 377-381
87. DiSanto J.P., Rieux-Laucat F., Dautry-Varsat A., Fischer A., and de Saint Basile G. Defective human interleukin 2 receptor γ chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc. Natl. Acad. Sci. USA 91 (1994) 9466-9470
88. Donner M., Schwartz M., Carlsson K.U., and Holmberg L. Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood 72 (1988) 1849-1853
89. Donohue W.L. Alymphocytosis. Pediatrics. 11 (1953) 129-139
90. Durandy A., Schiff C., Bonnefoy J.Y., Forveille M., Rousset F., Mazzei G., Milili M., and Fischer A. Induction by anti-CD40 antibody or soluble CD40 ligand and cytokines of IgG, IgA and IgE production by B cells from patients with X-linked hyper IgM syndrome. Eur. J. Immunol. 23 (1993) 2294-2299
91. Duriez B., Duquesnoy P., Dastot F., Bougnères P., Amselen S., and Goossens M. An exonskipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett. 346 (1994) 165-170
92. Eitzman D.V., and Smith R.T. Immunological studies on a patient with Aldrich's syndrome. South M. J. 53 (1960) 1552-1560
93. Elphinstone R.H., Wickes I.G., and Anderson A.B. Familial agammaglobulinaemia. Br. Med. J. 2 (1956) 336-338
94. Facchetti F., Appiani C., Salvi L., Levy J., and Notarangelo L.D. Immunohistologic analysis of ineffective CD40-CD40 ligand interactions in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM: Abortive germinal center cell reaction and severe depletion of follicular dendritic cells. J. Immunol. 154 (1995) 6624-6633
95. Fasth A. Primary immunodeficiency disorders in Sweden: Cases among children, 1974-1979. J. Clin. Immunol. 2 (1982) 86-92
96. Fearon E.R., Kohn D.B., Winkelstein J.A., Vogelstein B., and Blaese R.M. Carrier detection in the Wiskott-Aldrich syndrome. Blood 72 (1988) 1735-1739
97. Fearon E.R., Winkelstein J.A., Civin C.I., Pardoll D.M., and Vogelstein B. Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N. Engl. J. Med. 316 (1987) 427-431
98. Felsburg P.J., Somberg R.L., and Perryman L.E. Domestic animal models of severe combined immunodeficiency: Canine X-linked severe combined immunodeficiency and severe combined immunodeficiency in horses. Immunodefic. Rev. 3 (1992) 277-303
99. Firkin B.G., and Blackburn C.R.B. Congenital and acquired agammaglobulinaemia: A report of four cases. Quart. J. Med. 27 (1957) 187-205
100. Fischer A. Primary T-cell immunodeficiencies. Curr. Opin. Immunol. 5 (1993) 569-578
101. Fischer, A., de Saint Basile, G., DiSanto, J. P., De Villartay, J. P., Hivroz, C., Cavazzana-Calvo, M., and Le Deist, F. (1996). Severe combined immunodeficiencies. In "Handbook of Experimental Immunology," 5th Ed. (in press)
102. Fischer A., Landais P., Friedrich W., Gerritsen B., Fasth A., Porta F., Vellodi A., Benkerrou M., Jais J.P., Cavazzana-Calvo M., Souillet G., Bordigoni P., van Morgan G., Dijken P., Vossen J., Locatelli F., and di Bartolomeo P. Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: A report from the European Group for BMT and the European Group for Immunodeficiencies. Blood 83 (1994) 1149-1154
103. Foy T.M., Laman J.D., Ledbetter J.A., Aruffo A., Claassen E., and Noelle R.J. Gp39-CD40 interactions are essential for germinal center formation and the development of B cell memory. J. Exp. Med. 180 (1994) 157-163
104. Foy T.M., Shepherd D.M., Durie F.H., Aruffo A., Ledbetter J.A., and Noelle R.J. In vivo CD40-gp39 interactions are essential for thymus-dependent humoral immunity. II. Prolonged suppression of the humoral immune response by an antibody to the ligand for CD40, gp39. J. Exp. Med. 178 (1993) 1567-1575
105. Fröland S., Natvig J.B., and Berdal P. Surface-bound immunoglobulins as a marker of B lymphocytes in man. Nature New. Biol. 234 (1971) 251-252
106. Frøland S.S., and Natvig J.B. Surface-bound immunoglobulin on lymphocytes from normal and immunodeficient humans. Scand. J. Immunol. 1 (1972) 1-12
107. Fu S.M., Hurley J.N., McCune J.M., Kunkel H.G., and Good R.A. Pre-B cells and other possible precursor lymphoid cell lines derived from patients with X-linked agammaglobulinemia. J. Exp. Med. 152 (1980) 1519-1526
108. Fujii H., Nakagawa Y., Schindler U., Kawahara A., Mori H., Gouilleux F., Groner B., Ihle J.N., Minami Y., Miyazaki T., and Taniguchi T. Activation of Stat5 by interleukin 2 requires a carboxyl-terminal region of the interleukin 2 receptor β chain but is not essential for the proliferative signal transmission. Proc. Natl. Acad. Sci. USA 92 (1995) 5482-5486
109. Fuleihan R., Ramesh N., Loh R., Jabara H., Rosen F.S., Chatila T., Fu S.M., Stamenkovic I., and Geha R.S. Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. Proc. Natl. Acad. Sci. USA 90 (1993) 2170-2173
110. Gaspar H.B., Bradley L.A.D., Katz F., Lovering R.C., Roifman C.M., Morgan G., Levinsky R.J., and Kinnon C. Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinemia gene, including identification of an insertional hotspot. Hum. Mol. Genet. 4 (1995) 755-757
111. Gathings W.E., Lawton A.R., and Cooper M.D. Immunofluorescent studies of the development of pre-B cells, B lymphocytes and immunoglobulin isotype diversity in humans. Eur. J. Immunol. 7 (1977) 804-810
112. Gealy W.L., Dwyer J.M., and Harley J.B. Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier. Lancet 1 (1980) 63-65
113. Geha R.S., Rosen F.S., and Merler E. Identification and characterization of subpopulations of lymphocytes of human peripheral blood after fractionation on discontinuous gradients of albumin: The cellular defect in X-linked agammaglobulinemia. J. Clin. Invest. 52 (1973) 1726-1734
114. Geha R.S., Hyslop N., Alami S., Farha F., Schneeberger E.E., and Rosen F.S. Hyper immunoglobulin M immunodeficiency (dysgammaglobulinemia. J. Clin. Invest. 64 (1979) 385-391
115. Gelfand E.W., and Dosch H.M. Diagnosis and classification of severe combined immunodeficiency disease. Birth Defects 19 (1983) 65-72
116. Genevier H.C., Hinshelwood S., Gaspar H.B., Rigley K.P., Brown D., Saeland S., Rousset F., Levinsky R.J., Callard R.E., Kinnon C., and Lovering R.C. Expression of Bruton's tyrosine kinase protein within the B cell lineage. Eur. J. Immunol. 24 (1994) 3100-3105
117. Giri J.G., Ahdieh M., Eisenmann J., Shanebeck K., Grabstein K., Kumaki S., Namen A., Park L.S., Cosman D., and Anderson D. Utilization of the β and γ chains of the IL-2 receptor by the novel cytokine IL-15. EMBO. J. 13 (1994) 2827-2829
118. Gitlin D., and Janeway C.A. Agammaglobulinemia. Sci. Am. 197 (1957) 92-104
119. Gitlin D., and Craig J.M. The thymus and other lymphoid tissues in congenital agammaglobulinemia. I. Thymic alymphoplasia and lymphocytic hypoplasia and their relation to infection. Pediatrics X (1963) 517-530
120. Glanzmann V.E., and Riniker P. Essentielle Lymphocytophthise. Ann. Paediatr. 175 (1950) 1-32
121. Glick B., Chang T.S., and Jaap R.G. The Bursa of Fabricius and antibody production. Poult. Sci. 35 (1956) 224-225
122. Golay J.T., and Webster A.D.B. B cells in patients with X-linked and common variable hypogammaglobulinemia. Clin. Exp. Immunol. 65 (1986) 100-104
123. Good R.A. Clinical investigations in patients with agammaglobulinemia. J. Lab. Clin. Med. 44 (1954) 803
124. Good R.A., Dalmasso A.P., Martinez C., Archer O.C., Pierce J.C., and Papermaster B.W. The role of the thymus in development of immunologic capacity in rabbits and mice. J. Exp. Med. 116 (1962) 773-795
125. Good R.A., Kelly W.D., Rötstein J., and Varco R.L. Immunological deficiency diseases: Agammaglobulinemia, hypogammaglobulinemia, Hodgkin's disease and sarcoidosis. Prog. Allergy 6 (1962) 187-319
126. Good R.A., and Zak S.J. Disturbances in gamma globulin synthesis as "experiments of nature.". Pediatrics 18 (1956) 109-149
127. Goodship J., Carter J., Espanol T., Boyd Y., Malcolm S., and Levinsky R.J. Carrier detection in Wiskott-Aldrich syndrome: Combined use of M27β for X-inactivation studies and as a linked probe. Blood 77 (1991) 2677-2681
128. Goodship J., Malcolm S., and Levinsky R.J. Evidence that X-linked severe combined immunodeficiency is not a differentiation defect of T lymphocytes. Clin. Exp. Immunol. 83 (1991) 4-9
129. Gougeon M., Le Drean G., Deist F., Dousseau M., Fevrier M., Diu A., Theze J., Griscelli C., and Fischer A. Human severe combined immunodeficiency disease: Phenotypic and functional characteristics of peripheral B lymphocytes. J. Immunol. 145 (1990) 2873-2879
130. Graf D., Korthäuer U., Mages H.W., Senger G., and Kroczek R.A. Cloning of TRAP, a ligand for CD40 on human T cells. Eur. J. Immunol. 22 (1992) 3191-3194
131. Gray D., Dullforce P., and Jainandunsing S. Memory B cell development but not germinal center formation is impaired by in vivo blockade of CD40-CD40 ligand interaction. J. Exp. Med. 180 (1994) 141-155
132. Greer W.L., Kwong P.C., Peacocke M., Ip P., Rubin L.A., and Siminovitch K.A. X-chromosome inactivation in the Wiskott-Aldrich syndrome: A marker for detection of the carrier state and identification of cell lineages expressing the gene defect. Genomics 4 (1989) 60-67
133. Greer W.L., Somani A.-K., Kwong P.C., Peacocke M., Rubin L.A., and Siminovitch K.A. Linkage relationship of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome. Genomics 6 (1990) 568-571
134. Greer W.L., Peacocke M., and Siminovitch K.A. The Wiskott-Aldrich syndrome: Refinement of the localization on Xp and identification of another closely linked marker locus, OATL1. Hum. Genet. 88 (1992) 453-456
135. Grey H.M., Rabellino E., and Pirofsky B. Immunoglobulins on the surface of lymphocytes. IV. Distribution of hypogammaglobulinemia, cellular immune deficiency, and chronic lymphatic leukemia. J. Clin. Invest. 50 (1971) 2368-2375
136. Griscelli C., Durandy A., Virelizier J.L., Ballet J.J., and Daguillard F. Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immunodeficiency disease. J. Pediatr. 93 (1978) 404-411
137. Grote L.R., and Fischer-Wasels B. Ueber totale Alymphozytose (1929) 2040-2044 Münch. Med. Wschr.
138. Gröttum K.A., Hovig T., and Holmsen H. Wiskott-Aldrich syndrome: Qualitative platelet defects and short platelet survival. Br. J. Haematol. 17 (1969) 373-388
139. Guioli S., Arveiler B., Bardoni B., Notarangelo L.D., Panina P., Duse M., Ugazio A., Oberlé I., de Saint Basile G., Mandel J.L., and Camerino G. Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. Hum. Genet. 84 (1989) 19-21
140. Hacein-Bey S., Le Cavazzana-Calvo M., Deist F., Dautry-Varsat A., Hivroz C., Riviere I., Danos O., Heard J.M., Sugamura K., Fischer A., and De Saint Basile G. γc gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function. Blood 8 (1996) 3108-3116
141. Hagemann T.L., Assa'ad A.H., and Kwan S.P. Mutation analysis of the gene encoding Bruton's tyrosine kinase in a family with a sporadic case of X-linked agammaglobulinemia reveals three female carriers. Am. J. Med. Genet. 59 (1995) 188-192
142. Hagemann T.L., Chen Y., Rosen F.S., and Kwan S.-P. The genomic structure of the BTK gene and its use in direct DNA sequence analysis for mutations in patients with X-linked agammaglobulinemia. Hum. Mol. Genet. 3 (1994) 1743-1749
143. Hagemann T.L., Rosen F.S., and Kwan S. Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia. Hum. Mutat. 5 (1995) 296-302
144. Hammarström L., Gillner M., and Smith C.I.E. Molecular basis for human immunodeficiencies. Curr. Opin. Immunol. 5 (1993) 579-584
145. Hansel T.T., Haeney M.R., and Thompson R.A. Primary hypogammaglobulinemia and arthritis. Br. Med. J. 295 (1987) 174-175
146. Hayward A.R., Simons M., Lawton A.R., Cooper M.D., and Mage G. Pre-B and B cells in rabbits: Ontogeny and allelic exclusion. Fed. Proc. 36 (1977) 1295
147. He Y.W., and Malek T.R. The IL-2 receptor gamma c chain does not function as a subunit shared by the IL-4 and IL-13 receptors: Implications for the structure of the IL-4 receptor. J. Immunol. 155 (1995) 9-12
148. Hendriks R.W., Hinds H., Chen Z.-Y., and Craig I.W. The hypervariable DSX255 locus contains a LINE-1 repetitive element with a CpG island that is extensively methylated only on the active X chromosome. Genomics 14 (1992) 598-603
149. Hendriks R.W., Kraakman M.E.M., Craig I.W., Espanol T., and Shuurman R.K.B. Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact. Eur. J. Immunol. 20 (1990) 2603-2608
150. Hendriks R.W., and Schuurman R.K.B. Genetics of human X-linked immunodeficiency disease. Clin. Exp. Immunol. 85 (1991) 182-192
151. Henthorn P.S., Somberg R.L., Fimiani V.M., Puck J.M., Patterson D.F., and Felsburg P.J. IL-2Rγ gene microdeletion demonstrate that canine X-Linked severe combined immunodeficiency is a homologue of the human disease. Genomics 23 (1994) 69-74
152. Hermaszewski R.A., and Webster A.D.B. Primary hypogammaglobulinemia: A survey of clinical manifestations and complications. Quart. J. Med. 86 (1993) 31-42
153. Himmelmann A., Thevenin C., Harrison K., and Kehrl J.H. Analysis of the Bruton's tyrosine kinase gene promoter reveals critical PU.1 and Sp 1 sites. Blood 87 (1996) 1036-1044
154. Hinz Jr. C.F., and Boyer J.T. Dysgammaglobulinemia in the adult manifested as autoimmune hemolytic anemia. N. Engl. J. Med. 269 (1963) 1329-1335
155. Hitzig W.H. The Swiss type of agammaglobulinemia. Birth Def. Orig. Art. Ser. 4 (1968) 82-90
156. Hitzig W.H. Klinische Immunologie in der Praxis, 6. Primäre Immundefekte. Pädiat. prax. 46 (1993) 645-654
157. Hitzig W.H., Birò Z., Bosch H., and Huser H.J. Agammaglobulinämie und Alymphocytose mit Schwund des lymphatischen Gewebes. Helvet. Paediat. Acta. Vol. 13, Fasc. 6 (1958) 551-585
158. Hitzig W.H., and Willi H. Hereditäre lympho-plasmocytäre Dysgenesie («Alymphocytose mit Agammaglobulinämie»). Schweiz. Med. Wochenschrift. 52 (1961) 1625-1633
159. Hobbs J.R., Russell A., and Worlledge S.M. Dysgammaglobulinemia type IV C. Clin. Exp. Immunol. 2 (1967) 589-599
160. Hollenbaugh D., Grosmaire L.S., Kullas C.D., Chalupny N.J., Braesch-Andersen S., Noelle R.J., Stamenkovic I., Ledbetter J.A., and Aruffo A. The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: Expression of a soluble form of gp39 with B cell co-stimulatory activity. EMBO J. 11 (1992) 4131-4321
161. Hollenbaugh D., Wu L.H., Ochs H.D., Nonayama S., Grosmaire L.S., Ledbetter J.A., Noelle R.J., Hill H., and Aruffo A. The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper-IgM syndrome in female carriers of HIGM1. J. Clin. Invest. 94 (1994) 616-622
162. Hong R., Schubert W.K., Perrin E.V., and West C.D. Antibody deficiency syndrome associated with beta-2 macroglobulinemia. J. Pediatr. 61 (1962) 831-842
163. Ihle J.N. Cytokine receptor signalling. Nature 377 (1995) 591-594
164. Ihle J.N. STATs: Signal transducers and activators of transcription. Cell 84 (1996) 331-334
165. Ihle J.N., and Kerr I.M. Jaks and Stats in signaling by the cytokine receptor superfamily. Trends Genet. 11 (1995) 69-74
166. Ihle J.N., Witthuhn B.A., Quelle F.W., Yamamoto K., and Silvennoinen O. Signalling through the hematopoietic cytokine receptors. Annu. Rev. Immunol. 13 (1995) 369-398
167. Ihle J.N., Witthuhn B.A., Quelle F.W., Yamamoto K., Thierfelder W.E., Kreider B., and Silvennoinen O. Signaling by the cytokine receptor superfamily: JAKs and STATs. Trends Biochem. Sci. 19 (1994) 222-227
168. Ishii N., Asao H., Kimura Y., Takeshita T., Nakamura M., Tsuchiya S., Konno T., Maeda M., Uchiyama T., and Sugamura K. Impairment of ligand binding and growth signaling of mutant IL-2 receptor γ-chains in patients with X-linked severe combined immunodeficiency. J. Immunol. 153 (1994) 1310-1317
169. Israël-Asselain R., Burtin P., and Chebat J. Un trouble biologique nouveau: l'agammaglobulinémie avec β2-macroglobulinémie (un cas. Bull. Mém. Soc. Med., Hôp. Paris 56 (1960) 519-523
170. Iseki M., Anzo M., Yamashita N., and Matsuo N. Hyper-IgM immunodeficiency with disseminated cryptococcosis. Acta Paediatr. 83 (1994) 780-782
171. Izuhara K., Heike T., Otsuka T., Yamaoka K., Mayumi M., Imamura T., Niho Y., and Harada N. Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients. J. Biol. Chem. 271 (1996) 619-622
172. C.A. Janeway Cases from the medical grand rounds Massachusetts General Hospital. Am. Pract. Digest Treat. 5 1954 487 492
173. Janeway C.A., Apt L., and Gitlin D. Agammaglobulinemia. Trans. Assoc. Am. Physicians 66 (1953) 200-202
174. Jezyk P.F., Felsburg P.J., Haskins M.E., and Patterson D.F. X-linked severe combined immunodeficiency in the dog. Clin. Immunol. Immunopathol. 52 (1989) 173-189
175. Jin H., Webster A.D.B., Vihinen M., Sideras P., Vorechovsky I., Hammarström L., Bernatowska-Matuszkiewicz E., Smith C.I.E., Bobrow M., and Vetrie D. Identification of btk mutations in 20 unrelated patients with X-linked agammaglobulinemia (XLA. Hum. Mol. Genet. 4 (1995) 693-700
176. Karpusas M., Hsu Y.-M., Wang J.-H., Thompson J., Lederman S., Chess L., and Thomas D. 2 Å crystal structure of an extracellular fragment of human CD40 ligand. Structure 3 (1995) 1031-1039
177. Kawabe T., Naka T., Yoshida K., Tanaka T., Fujiwara H., Suematsu S., Yoshida N., Kishimoto T., and Kikutani H. The immune responses in CD40-deficient mice: Impaired immunoglobulin class switching and germinal center formation. Immunity 1 (1994) 167-178
178. Kawakami Y., Yao L., Miura T., Tsukada S., Witte O.N., and Kawakami T. Tyrosine phosphorylation and activation of Bruton tyrosine kinase (Btk) upon FcεRI cross-linking. Mol. Cell. Biol. 14 (1994) 5108-5113
179. Keidan S.E., McCarthy K., and Haworth J.C. Fatal generalized vaccinia with failure of antibody production and absence of serum gamma globulin. Arch. Dis. Child. 28 (1953) 110-116
180. Kenney D.M. Wiskott-Aldrich syndrome and related X-linked thrombocytopenia. Curr. Opin. Pediatr. 2 (1990) 931-934
181. Kenney D.M., Cairns L., Remold-O' Donnell E., Peterson J., Rosen F.S., and Parkman R. Morphological abnormalities in the lymphocytes of patients with the Wiskott-Aldrich syndrome. Blood 68 (1986) 1329-1332
182. Kerner J.D., Appleby M.W., Mohr R.N., Chien S., Rawlings D.J., Maliszewski C.R., Witte O.N., and Perlmutter R.M. Impaired expansion of mouse B-cell progenitors lacking Btk. Immunity 3 (1995) 301-312
183. Khan W.N., Alt F.W., Gerstein R.M., Malynn B.A., Larsson I., Rathbun G., Davidson L., Müller S., Kantor A.B., Herzenberg L.A., Rosen F.S., and Sideras P. Defective B cell development and function in Btk-deficient mice. Immunity 3 (1995) 283-299
184. Kimura Y., Takeshita T., Kondo M., Ishii N., van Nakamura M., Snick J., and Sugamura K. Sharing of the IL-2 receptor γ chain with the functional IL-9 receptor complex. Int. Immunol. 7 (1995) 115-120
185. Kinnon C., Hinshelwood S., Levinsky R.J., and Lovering R.C. X-linked agammaglobulinemia: Gene cloning and future prospects. Immunol. Today 14 (1993) 554-558
186. Kirchhausen T., and Rosen F.S. Unravelling Wiskott-Aldrich syndrome. Curr. Biol. 6 (1996) 676-678
187. Kobayashi S., Iwata T., Saito M., Iwasaki R., Matsumoto H., Naritaka S., Kono Y., and Hayashi Y. Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia. Hum. Genet. 97 (1996) 424-430
188. Kolluri R., Fuchs Tolias K., Carpenter C.L., Rosen F.S., and Kirchhausen T. Direct interaction of Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proc. Natl. Acad. Sci. USA 93 (1996) 5615-5618
189. Kolluri R., Shehabeldin A., Peacocke M., Lamhonwah A.-M., Teichert-Kuliszewska K., Weissman S.M., and Siminovitch K.A. Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. Hum. Mol. Genet. 4 (1995) 1119-1126
190. Kondo M., Takeshita T., Ishi N., Nakamura N., Watanabe S., Arai K., and Sugamura K. Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4. Science 262 (1993) 1874-1876
191. Korthäuer U., Graf D., Mages H.W., Brière F., Padayachee M., Malcolm S., Ugazio A.G., Notarangelo L.D., Levinsky R.J., and Kroczek R.A. Defective expression of T cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 361 (1993) 539-541
192. Kozinn P.J., Sigel M.M., and Gorrie R. Progressive vaccinia associated with agammaglobulinemia and defects in immune mechanism. Pediatrics 16 (1955) 600-608
193. Kozma R., Ahmed S., Best A., and Lim L. The Ras-related protein Cdc42Hs and bradykinin promote formation of peripheral actin microspikes and filopodia in Swiss 3T3 fibroblasts. Mol. Cell. Biol. 15 (1995) 1942-1952
194. De Kraakman M.E.M., Weers M., Espanol T., Schuurman R.K.B., and Hendriks R.W. Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M. Clin. Genet. 48 (1995) 46-48
195. Krivit W., and Good R.A. Aldrich's syndrome (thrombocytopenia, eczema and infection in infants): Studies of the defense mechanisms. Am. J. Dis. Child. 97 (1959) 137-153
196. Krivit W., Yunis E., and White J.G. Platelet survival studies in Aldrich syndrome. Pediatrics 37 (1966) 339-341
197. Kroczek R.A., Graf D., Brugnoni D., Giliani S., Korthäuer U., Ugazio A., Senger G., Mages H.W., Villa A., and Notarangelo L.D. Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1).". Immunol. Rev. 138 (1994) 39-59
198. Kumaki S., Ochs H.D., Timour M., Schooley K., Ahdeih M., Hill H., Sugamura K., Anderson D., Zhu Q., Cosman D., and Giri J. Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: Interleukin-15 binds to the B cells but is not internalized efficiently. Blood 86 (1995) 1428-1436
199. Kuramoto A., Steiner M., and Baldini M.G. Lack of platelet response to stimulation in the Wiskott-Aldrich syndrome. N. Engl. J. Med. 282 (1970) 475-479
200. Kwan S.-P., Hagemann T.L., Blaese R.M., Knutsen A., and Rosen F.S. Scanning of the Wiskott-Aldrich syndrome (WAS) gene: Identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. Hum. Mol. Genet 4 (1995) 1995-1998
201. Kwan S.-P., Hagemann T.L., Radtke B.E., Blaese R.M., and Rosen F.S. Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. Proc. Natl. Acad. Sci. USA 92 (1995) 4706-4710
202. Kwan S.-P., Kunkel L., Bruns G., Wedgwood R.J., Latt S., and Rosen F.S. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J. Clin. Invest. 77 (1986) 649-652
203. Kwan S.-P., Lehner T., Lu B., Raghu G., Blaese M., Sandkuyl L.A., Ott J., Fraser N., Boyd Y., Craig I.W., Fischer S., and Rosen F.S. Linkage of DXS255 to the Wiskott Aldrich syndrome gene. Cytogenet. Cell. Genet. 51 (1989) 1027 [Abstract]
204. Kwan S.-P., Lehner T., Hagemann T., Lu B., Blaese M., Ochs H., Wedgwood R., Ott J., Craig I.W., and Rosen F.S. Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-11.3. Genomics 10 (1991) 29-33
205. Kwan S.-P., Sandkuyl L.A., Blaese R.M., Kunkel L.M., Bruns G., Parmley R., Skarshaug S., Page D.C., Ott J., and Rosen F.S. Genetic mapping of the Wiskott-Aldrich syndrome with two highly linked polymorphic DNA markers. Genomics 3 (1988) 39-43
206. Kwan S.-P., Terwilliger J., Parmley R., Raghu G., Sandkuyl L.A., Ott J., Ochs H., Wedgwood R., and Rosen F. Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus. Genomics 6 (1990) 238-242
207. Kyong C.U., Virella G., Fudenberg H.H., and Darby C.P. X-linked immunodeficiency with increased IgM: Clinical, ethnic., and immunologic heterogeneity. Pediatr. Res. 12 (1978) 1024-1026
208. Lai K.S., Jin Y., Graham D.K., Witthuhn B.A., Ihle J.N., and Liu E.T. A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells. J. Biol. Chem. 270 (1995) 25028-25036
209. Lane P., Burdet C., McConnell F., Lanzavecchia A., and Padovan E. CD40 ligand-independent B cell activation revealed by CD40 ligand-deficient T cell clones: Evidence for distinct activation requirements for antibody formation and B cell proliferation. Eur. J. Immunol. 25 (1995) 1788-1793
210. Lane P., Traunecker A., Hubele S., Inui S., Lanzavecchia A., and Gray D. Activated human T cells express a ligand for the human B cell-associated antigen CD40 which participates in T cell-dependent activation of B lymphocytes. Eur. J. Immunol. 22 (1992) 2573-2578
211. Lang N., Schettler G., and Wildhack R. Über einen Fall von Agammaglobulinämie und das Verhalten parenteral zugeführten radioaktiv markierten Gammaglobulins im Serum. Klin. Wochenschr. 32 (1954) 856-863
212. Lederman H.M., and Winkelstein J.A. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore 64 (1985) 145-156
213. Lederman S., Yellin M.J., Inghirami G., Lee J.J., Knowles D.M., and Chess L. Molecular interactions mediating T-B lymphocyte collaboration in human lymphoid follicles: Roles of T cell-B cell-activating molecule (5c8 antigen) and CD40 in contact-dependent help. J. Immunol. 149 (1992) 3817-3826
214. Leonard W.J., Depper J.M., Crabtree J.R., Rudikoff S., Pumphrey J., Robb R.J., Kronke M., Svetlik P.B., Peffer N.J., Waldmann T.A., and Green W.C. Molecular cloning and expression of cDNAs for the human interleukin-2 receptor. Nature 311 (1984) 626-631
215. c, by the IL-2, IL-4, and IL-7 receptors: Implications for X-linked severe combined immunodeficiency (XSCID. Adv. Exp. Med. Biol 365 (1994) 225-232
216. Lesch M., and Nyhan W.L. A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 36 (1964) 561-566
217. Levitt D., Haver P., Rich K., and Cooper M.D. Hyper IgM immunodeficiency: A primary dysfunction of B lymphocyte isotype switching. J. Clin. Invest. 72 (1983) 1650-1657
218. Li T., Tsukada S., Satterthwaite A., Havlik M.H., Park H., Takatsu K., and Witte O.N. Activation of Bruton's tyrosine kinase (Btk) by a point mutation in its Pleckstrin homology (PH) domain. Immunity 2 (1995) 451-460
219. Li W., Hu P., Skilnik E.Y., Ullrich A., and Schlessinger J. The SH2 and SH3 domain-containing NcK protein is oncogenic and a common target for phosphorylation by different surface receptors. Mol. Cell. Biol. 12 (1992) 5824-5833
220. Lin C.-Y., and Hsu H.-C. Acute immune complex mediated glomerulonephritis in a chinese girl with Wiskott-Aldrich syndrome variant. Ann. Allergy 53 (1984) 74-78
221. Lin J.X., Migone T.S., Tsang M., Friedmann M., Weatherbee J.A., Zhou L., Yamauchi A., Bloom E.T., Mietz J., John S., and Leonard W.J. The role of shared receptor motifs and common stat proteins in the generation of cytokine pleiotropy and redundancy by IL-2, IL-4, IL-7, IL-13, and IL-15. Immunity 2 (1995) 331-339
222. Lin Q., Rohrer J., Allen R.C., Larché M., Greene J.M., Shigeoka A.O., Gatti R.A., Derauf D.C., Belmont J.W., and Conley M.E. A single strand conformation polymorphism study of CD40 ligand. J. Clin. Invest. 97 (1996) 196-201
223. Lovering R., Middleton-Price H.R., O'Reilly M.-A.J., Genet S.A., Parkar M., Sweatman A.K., Bradley L.D., Alterman L.A., Malcolm S., Morgan G., Levinsky R.J., and Kinnon C. Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its location in Xq22. Hum. Mol. Genet. 2 (1993) 139-141
224. Lovering R., Sweatman A.K., O'Reilly M.-A.J., Genet S.A., Middleton-Price H., Malcolm S., Levinsky R.J., and Kinnon C. Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. Hum. Genet. 91 (1993) 178-180
225. Lovett M., Kere J., and Hinton L. Direct selection: A method for the isolation of cDNAs encoded by large genomic regions. Proc. Natl. Acad. Sci. USA 88 (1991) 9628-9632
226. Luzi G., Businco L., and Aiuti F. Primary immunodeficiency syndromes in Italy: A report of a national register in children and adults. J. Clin. Immunol. 3 (1983) 316-320
227. Lyon M.F. X-chromosome inactivation in mammals. Adv. Teratol. 1 (1966) 25-54
228. Lyon M.F., Peters J., Glenister P.H., Ball S., and Wright E. The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc. Natl. Acad. Sci. USA 87 (1990) 2433-2437
229. Macchi P., Villa A., Giliani S., Sacco M.G., Frattini A., Porta F., Ugazio A.G., Johnston J.A., Candotti F., Shea O.'J.J., Vezzoni P., and Notarangelo L.D. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID. Nature 377 (1995) 65-68
230. Macchi P., Villa A., Strina D., Sacco M.G., Morali F., Brugnoni D., Giliani S., Mantuano E., Fasth A., Anderson B., Zegers B.J.M., Cavagni G., Reznick I., Levy J., Zan-Bar I., Porta Y., Airò P., Plebani A., Vezzoni P., and Notarangelo L.D. Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper-IgM syndrome of various ancestry. Am. J. Hum. Genet. 56 (1995) 898-906
231. Malcolm S., De Saint Basile G., Arveiler B., Lau Y.L., Szabo P., Fischer A., Griscelli C., Debre M., Mandel J.L., Callard R.E., Robertson M.E., Goodship J.A., Pembrey M.E., and Levinsky R.J. Close linkage of random DNA fragments from Xq21.3-22 to X-linked agammaglobulinaemia (XLA. Hum. Genet. 77 (1987) 172-174
232. Markert M.L. Molecular basis of adenosine deaminase deficiency. Immunodeficiency 5 (1994) 131-140
233. Markiewicz S., DiSanto J., Chelly J., Fairweather N., LeMarec B., Griscelli C., Graeber M., Muller U., Fischer A., Monaco A., and de Saint Basile G. Fine mapping of the human SCIDX1 locus at Xq12-13.1. Hum. Mol. Genet. 2 (1993) 651-654
234. Markiewicz S., Subtil A., Dautry-Varsat A., Fischer A., and de Saint Basile G. Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor γ chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21 (1994) 291-293
235. Martin N.H. Agammaglobulinemia: A congenital defect. Lancet 2 (1954) 1094-1095
236. Matthews D.J., Clark P.A., Herbert J., Morgan G., Armitage R.J., Kinnon C., Minty A., Grabstein K.H., Caput D., Ferrara P., and Callard A. Function of the Interleukin-2 (IL-2) receptor γ-chain in biologic responses of X-linked severe combined immunodeficient B cells to IL-2, IL-4, IL-13, and IL-15. Blood 85 (1995) 38-42
237. Mattsson P.T., Vihinen M., and Smith C.I.E. X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease. BioEssays 18 (1996) 825-834
238. Mayer L., Kwan S.-P., Thompson C., Ko H.S., Chiorazzi N., Waldmann T.A., and Rosen F.S. Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M. N. Engl. J. Med. 314 (1986) 409-413
239. Mazzarella R., Ciccodicola A., Esposito T., Arcucci A., Migliaccio C., Jones C., Schlessinger D., D'Urso M., and D'Esposito M. Human protein kinase C Iota gene (PKCI) is closely linked to the BTK gene in Xq21.3. Genomics 26 (1996) 629-631
240. McKinney Jr. R.E., Katz S.L., and Wilfert C.M. Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. Rev. Infect. Dis. 9 (1987) 334-356
241. Mensink B.M.E.J., Schot J.D.L., Tippett P., Ott J., and Schuurman R.K.B. X-linked agammaglobulinemia and the red blood cell determinants Xg and 12E7 are not closely linked. Hum. Genet. 68 (1984) 303-309
242. Mensink B.M.E.J., Thomspon A., Sandkuyl L.A., Kraakman M.E.M., Schot J.D.L., Espanol T., and Schuurman R.K.B. X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restruction fragment length polymorphism locus. Hum. Genet 76 (1987) 96-99
243. Mensink B.M.E.J., Thompson A., Schot J.D.L., van de Greef W.M.M., Sandkuyl L.A., and Schuurman R.K.B. Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. Hum. Genet. 73 (1986) 327-332
244. Mentzer S.J., Remold-O'Donnell E., Crimmins M.A.V., Bierer B.E., Rosen F.S., and Burakoff S.J. Sialophorin, a surface sialoglycoprotein defective in the Wiskott-Aldrich syndrome, is involved in human T lymphocyte proliferation. J. Exp. Med. 165 (1987) 1383-1392
245. Migchielsen A.A.J., van Breuer M.L., Roon M.A., te Riele H., Zurcher C., Ossendorp F., Toutain S., Hershfield M.S., Berns A., and Valerio D. Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nat. Genet. 10 (1995) 279-287
246. Miller A.P.J.F., Marshall A.H.E., and White R.G. The immunological significance of the thymus. Adv. Immunol. 2 (1962) 111-162
247. Minami Y., Kono T., Miyazaki T., and Taniguchi T. The IL-2 receptor complex: Its structure, function and target genes. Annu. Rev. Immunol. 11 (1993) 245-267
248. Minegishi Y., Ishii N., Maeda H., Takagi S., Tsuchida M., Okawa H., Sugamura K., and Yata J. Three novel mutations in the interleukin-2 receptor γ chain gene in four Japanese patients with X-linked severe combined immunodeficiency. Hum. Genet. 96 (1995) 681-683
249. Minegishi Y., Akagi K., Nishikawa K., Okawa H., and Yata J. Analysis of the CDR3 region of the rearranged IgH chain genes in patients with severe combined immunodeficiency and severe lymphopenia. J. Immunol. 156 (1996) 4666-4671
250. Miyazaki T., Kawahara A., Fujii H., Nakagawa Y., Minami Y., Liu Z.-J., Oishi I., Silvennoinen O., Witthuhn B.A., Ihle J.N., and Taniguchi T. Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science 266 (1994) 1045-1047
251. Molina I.J., Kenney D.M., Rosen F.S., and Remold-O'Donnell E. T cell lines characterize events in the pathogenesis of the Wiskott-Aldrich syndrome. J. Exp. Med. 176 (1992) 867-874
252. Molina I.J., Sancho J., Terhorst C., Rosen F.S., and Remold-O'Donnell E. T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. J. Immunol. 151 (1993) 4383-4390
253. Mukhopadhyay N., Richie E., Mackler B.F., Montgomery J.R., Wilson R., Fernbach D.J., and South M.A. A longitudinal study of T and B lymphocytes from a three-year-old patient with severe combined immunodeficiency (SCID) in gnotobiotic protection. Exp. Hematol 6 (1978) 129-134
254. Mullen C.A., Anderson K.D., and Blaese R.M. Splenectomy and/or bone marrow transplantation in the management of the Wiskott-Aldrich syndrome: Long-term follow-up of 62 cases. Blood 82 (1993) 2961-2966
255. Müller S., Sideras P., Smith C.I.E., and Xanthopoulos K.G. Cell specific expression of human Bruton's agammaglobulinemia tyrosine kinase gene (Btk) is regulated by Sp1- and Spi-1/PU.1-family members. Oncogene 13 (1996) 1955-1964
256. Murphy S., Oski F.A., Naiman J.L., Lusch C.J., Goldberg S., and Gardner F.H. Platelet size and kinetics in hereditary and acquired thrombocytopenia. N. Engl. J. Med. 286 (1972) 499-504
257. Muthusamy N., Barton K., and Leiden J.M. Defective activation and survival of T cells lacking the Ets-1 transcription factor. Nature 377 (1995) 639-642
258. Nahm M.H., Paslay J.W., and Davie J.M. Unbalanced X chromosome mosaicism in B cells of mice with X-linked immunodeficiency. J. Exp. Med. 158 (1983) 920-931
259. Naor D., Bentwich Z., and Cvidalli G. Inability of peripheral lymphoid cells of agammaglobulinaemic patients to bind radioiodinated albumins. Aust. J. Exp. Biol. Med. Sci. 47 (1969) 759-761
260. Nikaido T., Shimizu A., Ishida N., Sabe H., Teshigawara K., Maeda M., Uchiyama T., Yodoi J., and Honjo T. Molecular cloning of cDNA encoding human interleukin-2 receptor. Nature 311 (1984) 631-635
261. Nobes C.D., and Hall A. Rho, Rac., and Cdc42 GTPases regulate the assembly of multimolecular focal complexes associated with actin stress fibers, lamellipodia, and filopodia. Cell 81 (1995) 53-62
262. Noelle R.J. CD40 and its ligand in host defence. Immunity 4 (1996) 415-419
263. Noelle R.J., Roy M., Shepherd D.M., Stamenkovic I., Ledbetter J.A., and Aruffo A. A 39-kDa protein on activated helper T cells binds CD40 and transduces the signal for cognate activation of B cells. Proc. Natl. Acad. Sci. USA 89 (1992) 6550-6554
264. Noguchi M., Adelstein S., Cao X., and Leonard W.J. Characterization of the human interleukin-2 receptor γ chain gene. J. Biol. Chem. 268 (1993) 13601-13608
265. Noguchi M., Nakamura Y., Russell S.M., Ziegler S.F., Tsang M., Cao X., and Leonard W.J. Interleukin-2 receptor γ chain: A functional component of the interleukin-7 receptor. Science 262 (1993) 1877-1880
266. Noguchi M., Yi H., Rosenblatt H.M., Filipovich A.H., Adelstein S., Modi W.S., McBride O.W., and Leonard W.J. Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73 (1993) 147-157
267. Nonoyama S., Hollenbaugh D., Aruffo A., Ledbetter J.A., and Ochs H.D. B cell activation via CD40 is required for specific antibody production by antigen-stimulated human B cells. J. Exp. Med. 178 (1993) 1097-1102
268. van Nosaka T., Deursen J.M.A., Tripp R.A., Thierfelder W.E., Witthuhn B.A., McMickle A.P., Doherty P.C., Grosveld G.C., and Ihle J.N. Defective lymphoid development in mice lacking Jak3. Science 270 (1995) 800-802
269. Notarangelo, L. D. (1996). X-linked immunodeficiencies. In "Handbook in Experimental Immunology," 5th Ed. (in press)
270. Notarangelo L.D., Candotti F., Parolini O., Mantuano E., Giliani S., Lanfranchi A., and Alberttini A. Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome. DNA Cell Biol. 12 (1993) 645-649
271. Notarangelo L.D., Duse M., and Ugazio A.G. Immunodeficiency with hyper-IgM. Immunodef. Rev. 3 (1992) 101-122
272. Notarangelo L.D., Parolini O., Faustini R., Porteri V., Albertini A., and Ugazio A.G. Presentation of Wiskott-Aldrich syndrome as isolated thrombocytopenia. Blood 77 (1991) 1125-1126
273. Notarangelo L.D., Peitsch M.C., Abrahamsen T.G., Bachelot C., Bordigoni P., Cant A.J., Chapel H., Clementi M., Deacock S., de Saint Basile G., Duse M., Espanol T., Etzioni A., Fasth A., Fischer A., Giliani S., Gomez L., Hammarström L., Jones A., Kanariou M., Kinnon C., Klemola T., Kroczek R.A., Levy J., Matamoros N., Monafo V., Paolucci P., Reznick I., Sanal O., Smith C.I.E., Thompson R.A., Tovo P., Villa A., Vihinen M., Vossen J., Zegers B.J.M., Ochs H.D., Conley M.E., Iseki M., Ramesh N., Shimadzu M., and Saiki O. CD40Lbase: A database of CD40L gene mutations causing X-linked hyper-IgM syndrome. Immunol. Today 17 (1996) 511-516
274. Nyhan W.L., Bakay B., Connor J.D., Marks J.F., and Keele D.K. Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc. Natl. Acad. Sci. USA 65 (1970) 214-218
275. Obiri N.I., Debinski W., Leonard W.J., and Puri R.K. Receptor for interleukin 13: Interaction with interleukin 4 by a mechanism that does not involve the common gamma chain shared by receptors for interleukins 2, 4, 7, 9, and 15. J. Biol. Chem. 270 (1995) 8797-8804
276. Ochs H.D., Slichter S.J., Harker L.A., Von Behrens W.E., Clark R.A., and Wedgwood R.J. The Wiskott-Aldrich syndrome: Studies of lymphocytes, granulocytes, and platelets. Blood 55 (1980) 243-252
277. Ochs, H. D., and Smith, C. I. E. (1996). X-linked agammaglobulinemia: A clinical and molecular analysis. Medicine (in press)
278. Oeltjen J.C., Liu X., Lu J., Allen R.C., Muzny D., Belmont J.W., and Gibbs R.A. Sixty-nine kilobases of contiguous human genomic sequence containing the α-galactosidase A and Bruton's tyrosine kinase loci. Mamm. Genome 6 (1995) 334-338
279. Ohashi Y., Tsuchiya S., and Konno T. A new point mutation involving a highly conserved leucine in the btk SH2 domain in a family with X-linked agammaglobulinemia. J. Med. Genet. 32 (1995) 77-78
280. Ohbo K., Takasawa N., Ishii N., Tanaka N., Nakamura M., and Sugamura K. Functional analysis of the human interleukin 2 receptor γ chain gene promoter. J. Biol. Chem. 270 (1995) 7479-7486
281. Ohbo K., Suda T., Hashiyama M., Mantani A., Ikebe M., Miyakawa K., Moriyama M., Nakamura M., Katsuki M., Takahashi K., Yamamura K.-I., and Sugamura K. Modulation of hematopoiesis in mice with a truncated mutant of the interleukin-2 receptor γ chain. Blood 87 (1996) 956-967
282. Ohta Y., Haire R.N., Litman R.T., Fu S.M., Nelson R.P., Kratz J., Kornfeld S.J., de la Morena M., Good R.A., and Litman G.W. Genomic organisation and structure of Bruton agammaglobulinemia tyrosine kinase: Localisation of mutations associated with varied clinical presentations and course in X-linked agammaglobulinemia. Proc. Natl. Acad. Sci. USA 91 (1994) 9062-9066
283. Olhagen B. Recidiverande luftvägsinfektioner och agammaglobulinemi - ett nytt syndrom. Nord. Med. 50 (1953) 1688-1689
284. O'Reilly M.-A., Alterman L.A., Zijlstra J., Malcolm S., Levinsky R.J., and Kinnon C. Pulsed-field gel electrophoresis and radiation hybrid mapping analyses enable the ordering of eleven DAN loci in Xq22. Genomics 15 (1993) 275-282
285. O'Reilly M.-A.J., Sweatman A.K., Bradley L.D., Alterman L.A., Lovering R., Malcolm S., Levinsky R.J., and Kinnon C. Isolation and mapping of discrete DXS101 loci in Xq22 near the X-linked agammaglobulinaemia gene locus. Hum. Genet. 91 (1993) 605-608
286. Ott J., Mensink B.M.E.J., Thompson A., Schot J.D., and Schuurman R.K.B. Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci. Hum. Genet. 74 (1986) 280-283
287. Padayachee M., Feighery C., Finn A., McKeown C., Levinsky R.J., Kinnon C., and Malcolm S. Mapping the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. Genomics 14 (1992) 551-553
288. Padayachee M., Levinsky R.J., Kinnon C., Finn A., McKeown C., Feighery C., Notarangelo L.D., Hendriks R.W., Read A.P., and Malcolm S. Mapping of the X linked form of hyper IgM syndrome (HIGM1. J. Med. Genet. 30 (1992) 202-205
289. Pallant A., Eskenazi A., Mattei M.-V., Fournier R.E.K., Carlsson S.R., Fukuda M., and Frelinger J.G. Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16. Proc. Natl. Acad. Sci. USA 86 (1989) 1328-1332
290. Parimoo S., Patanjali S.R., Shukla H., Chaplin D.D., and Weissman S.M. cDNA selection: Efficient PCR approach for the selection of cDNAs encoded in large chromosomal DNA fragments. Proc. Natl. Acad. Sci. USA 88 (1991) 9623-9627
291. Park H., Wahl M.I., Afar D.E.H., Turck C.W., Rawlings D.J., Tam C., Scharenberg A.M., Kinet J.-P., and Witte O.N. Regulation of Btk function by a major autophosphorylation site within the SH3 domain. Immunity 4 (1996) 515-525
292. Park S.Y., Saijo K., Takashashi T., Osawa M., Arase H., Hirayama N., Miyake K., Nakauchi H., Shirasawa T., and Saito T. Developmental defects of lymphoid cells in Jak3 kinase-deficient mice. Immunity 3 (1995) 771-782
293. Parkman R., Kenney D.M., Remold-O'Donnell E., Perrine S., and Rosen F.S. Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome. Lancet ii (1981) 1387-1389
294. Parkman R., Rappeport J., Geha R., Belli J., Cassady R., Levey R., Nathan D.G., and Rosen F.S. Complete correction of the Wiskott-Aldrich syndrome by allogenic bone-marrow transplantation. N. Engl. J. Med. 298 (1978) 921-927
295. Parolini O., Hejtmancik J.F., Allen R.C., Belmont J.W., Lassiter G.L., Henry M.J., Barker D.F., and Conley M.E. Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22. Genomics 15 (1993) 342-349
296. Parsey M.V., and Lewis G.K. Actin polimerization and pseudopod reorganization accompany anti-CD3/induced growth arrest in Jurkat T cells. J. Immunol. 151 (1993) 1881-1888
297. Paschall V.L., Brown L.A., Lawrence E.C., Karol R.A., Lotzova E., Brown B.S., and Shearer W.T. Immunoregulation in an isolated 12-year-old boy with congenital severe combined immunodeficiency. Pediatr. Res. 18 (1984) 723-728
298. Peacocke M., and Siminovitch K.A. Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X-chromosome. Proc. Natl. Acad. Sci. USA 84 (1987) 3430-3433
299. Pearl E.R., Vogler L.B., Okos A.J., Crist W.M., Lawton A.R., and Cooper III M.D. B lymphocyte precursors in human bone marrow: An analysis of normal individuals and patients with antibody-deficiency states. J. Immunol. 120 (1978) 1169-1175
300. Pearson H.A., Shulman N.R., Oski F.A., and Eitzman D.V. Platelet survival in Wiskott-Aldrich syndrome. J. Pediatr. 68 (1966) 754-760
301. Pearson P., Francomano C., Foster P., Bocchini C., Li P., and McKusick V. The status of online Mendelian inheritance in man (OMIM) medio 1994. Nucleic Acids Res. 22 (1994) 3470-3473
302. Peitsch M.C., and Jongeneel C.V. A 3-D model for the CD40 ligand predicts that it is a compact trimer similar to the tumor necrosis factors. Int. Immunol. 5 (1993) 233-238
303. Pepper A.E., Buckley R.H., Small T.N., and Puck J.M. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. Am. J. Hum. Genet. 57 (1995) 564-571
304. Perlmutter R.M., Nahm M., Stein K.E., Slack J., Zitron I., Paul W.E., and Davie J.M. Immunoglobulin subclass-specific immunodeficiency in mice with an X-linked B-lymphocyte defect. J. Exp. Med. 149 (1979) 993-998
305. Perry III G.S., Spector B.D., Schuman L.M., Mandel J.S., Anderson V.E., McHugh R.B., Hanson M.R., Fahlstrom S.M., Krivit W., and Kersey J.H. The Wiskott-Aldrich syndrome in the United States and Canada 1892-1979. J. Pediatr. 97 (1980) 72-78
306. Pilia G., Porta G., Padayachee M., Malcolm S., Zucchi I., Villa A., Macchi P., Vezzoni P., and Schlessinger D. Human CD40L gene maps between DXS144E and DXS300 in Xq26. Genomics 22 (1994) 249-251
307. Le Piller F., Deist F., Weinberg K.I., Parkman R., and Fukuda M. Altered O-glycan synthesis in lymphocytes from patients with Wiskott-Aldrich syndrome. J. Exp. Med. 173 (1991) 1501-1510
308. Pollack M.S., Kirkpatrick D., Kapoor N., Dupont B., and Reilly O.'R. Identification by HLA typing of intrauterine-derived maternal T cells in four patients with severe combined immunodeficiency. N. Engl. J. Med. 307 (1982) 662-666
309. Prchal J.T., Carroll A.J., Prchal J.F., Crist W.M., Skalka H.W., Gealy W.J., Harley J., and Malluh A. Wiskott-Aldrich syndrome: Cellular impairments and their implication for carrier detection. Blood 56 (1980) 1048-1054
310. Preud'Homme J.L., Griscelli C., and Seligmann M. Immunoglobulins on the surface of lymphocytes in fifty patients with primary immunodeficiency diseases. Clin. Immunol. Immunopathol. 1 (1973) 241-256
311. Puck J.M., de Saint Basile G., Schwarz K., Fugmann S., and Fischer R.E. IL2RGbase: A database of γc defects causing human X-linked SCID. Immunol. Today 17 (1996) 507-511
312. Puck J.M., Deschânes S.M., Porter J.C., Dutra A.S., Brown C.J., Willard H.F., and Henthorn P.S. The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet. 2 (1993) 1099-1140
313. Puck J.M., Nussbaum R.L., and Conley M.E. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J. Clin. Invest. 79 (1987) 1395-1400
314. Puck J.M., Nussbaum R.L., Smead D.L., and Conley M.E. X-linked severe combined immunodeficiency: Localization within the region Xq13.1-q21.1 by linkage and deletion analysis. Am. J. Hum. Genet. 44 (1989) 724-730
315. Puck J.M., Pepper A.E., Bédard P.M., and Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J. Clin. Invest. 95 (1995) 895-899
316. Qazilbash M.H., Walsh C.E., Russell S.M., Noguchi M., Mann M.M., Leonard W.J., and Liu J.M. Retroviral vector for gene therapy of X-linked severe combined immunodeficiency syndrome. J. Hematother. 4 (1995) 91-98
317. Raff M.C., Meason M., Owen J.J., and Cooper M.D. Early production of intracellular IgM by lymphocyte precursors in mouse. Nature 259 (1976) 224-226
318. Ramesh N., Fuleihan R., Ramesh V., Lederman S., Yellin M.J., Sharma S., Chess L., Rosen F.S., and Geha R.S. Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1. Int. Immunol. 5 (1993) 769-773
319. Ramesh N., Fuleihan R., and Geha R. Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1. Immunol. Rev. 138 (1994) 87-104
320. Ramesh N., Fuleihan R., Swinton P., Rosen F.S., and Geha R. A point mutation in exon 2 of the CD40 ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M. Hum. Mol. Genet. 4 (1995) 759-761
321. Rawlings D.J., Saffran D.C., Tsukada S., Largaespada D.A., Grimaldi J.C., Cohen L., Mohr R.N., Bazan J.F., Howard M., Copeland N.G., Jenkins N.A., and Witte O.N. Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science 261 (1993) 358-361
322. Rawlings D.J., Scharenberg A.M., Park H., Wahl M.I., Lin S., Kato R.M., Fluckiger A.C., Witte O.N., and Kinet J.P. Activation of BTK by a phosphorylation mechanism initiated by Src family kinases. Science 271 (1996) 822-825
323. Rawlings D.J., and Witte O.N. Bruton's tyrosine kinase is a key regulator in B cell development. Immunol. Rev. 138 (1994) 105-119
324. Rawlings D.J., and Witte O.N. The Btk subfamily of cytoplasmic tyrosine kinases: Structure, regulation, and function. Sem. Immunol. 7 (1995) 237-246
325. Remold-O'Donnell E., Kenney D.M., Parkman R., Cairns L., Savage B., and Rosen F.S. Characterization of a human lymphocyte surface sialoglycoprotein that is defective in Wiskott-Aldrich syndrome. J. Exp. Med. 159 (1984) 1705-1723
326. Remold-O' van Donnell E., Brocklyn J., and Kenney D.M. Effect of platelet calpain on normal T-lymphocyte CD43: Hypothesis of events in the Wiskott-Aldrich syndrome. Blood 79 (1992) 1754-1762
327. Renshaw B.R., Fanslow III W.C., Armitage R.J., Campbell K.A., Liggitt D., Wright B., Davison B.L., and Maliszewski C.R. Humoral immune responses in CD40 ligand-deficient mice. J. Exp. Med. 180 (1994) 1889-1900
328. Rivero-Lezcano O.M., Marcilla A., Sameshima J.H., and Robbins K.C. Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domain. Mol. Cell. Biol. 15 (1995) 5725-5731
329. Robbins J., Blondel B.J., Gallahan D., and Gallahan R. Mouse mammary tumor gene int-3: A member of the notch gene family transforms mammary epithelial cells. J. Virol 66 (1992) 2594-2599
330. Rohrer J., Parolino O., Belmont J.W., and Conley M.E. The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia. Immunogenetics 40 (1994) 319-324
331. Roos D., Curnutte J.T., Hossle H.-P., Lau Y.L., Ariga T., Nunoi H., Dinauer M.C., Gahr M., Segal A.W., Newberger P.E., Giacca M., Keep N.H., and van Zweiten R. X-CGDbase: A database of X-CGD-causing mutations. Immunol. Today 17 (1996) 517-521
332. Root A.W., and Speicher C.E. The triad of thrombocytopenia, eczema, and recurrent infections (Wiskott-Aldrich syndrome) associated with milk antibodies, giant-cell pneumonia, and cytomegalic inclusion disease. Pediatrics 31 (1963) 444-454
333. Rosen F.S., Kevy S.V., Merler E., Janeway C.A., and Gitlin G. Recurrent bacterial infections and dysgammaglobulinemia: Deficiency of 7S gammaglobulins in the presence of elevated 19S gammaglobulins. Pediatrics 28 (1961) 182-195
334. Rosen F.S., Gitlin D., and Janeway C.A. Alymphocytosis, agammaglobulinemia, homografts, and delayed hypersensitivity: Study of case. Lancet 2 (1962) 380-381
335. Rosen F.S., and Bougas J.A. Acquired dysgammaglobulinemia: Elevation of the 19S gamma globulin and deficiency of the 7S gamma globulin in a woman with chronic progressive bronchiectasis. N. Engl. J. Med. 269 (1963) 1336-1340
336. Rosen F.S., Cooper M.D., and Wedgwood R.J.P. The primary immunodeficiencies (first of two papers. N. Engl. J. Med. 311 (1984) 235-242
337. Rosen F.S., Hutchison G.B., and Allen Jr. F.H. Xg blood groups and congenital hypogammaglobulinemia. Vox. Sang. 10 (1965) 729-730
338. Rosen F.S., and Janeway C.A. The gamma globulins. III. The antibody deficiency syndromes. N. Engl. J. Med. 275 (1966) 769-775
339. Rousset F., Garcia E., and Banchereau J. Cytokine-induced proliferation and immunoglobulin production of human B lymphocytes triggered through their CD40 antigen. J. Exp. Med. 173 (1991) 705-710
340. Royer-Pokora B., Kunkel L.M., Monaco A.P., Goff S.C., Newburger P.E., Baehner R.L., Cole S.F., Curnutte J.T., and Orkin S.H. Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal position. Nature 322 (1986) 32-38
341. c chains with Jak1 and Jak3: Implications for XSCID and XCID. Science 266 (1994) 1042-1044
342. Russell S.M., Keegan A.D., Harada N., Nakamura Y., Noguchi M., Leland P., Friedmann M.C., Miyajima A., Puri R.K., Paul W.E., and Leonard W.J. Interleukin-2 receptor γ chain: A functional component of the interleukin-4 receptor. Science 262 (1993) 1880-1883
343. Russell S.M., Tayebi N., Nakajima H., Riedy M.C., Roberts J.L., Aman M.J., Migone T.-S., Noguchi M., Markert M.L., Buckley R.H., Shea O.'J.J., and Leonard W.J. Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development. Science 270 (1995) 797-800
344. Saffran D.C., Parolini O., Fitch-Hilgenberg M.E., Rawlings D.J., Afar D.E.H., Witte O.N., and Conley M.E. Brief report: A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. N. Engl. J. Med. 330 (1994) 1488-1491
345. Saiki O., Tanaka T., Wada Y., Uda H., Inoue A., Katada Y., Izeki M., Iwata M., Nunoi H., Matsuda I., Kinoshita N., and Kishimoto T. Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM. J. Clin. Invest. 95 (1995) 510-514
346. Sanger R., and Race R.R. The Xg blood groups and familial hypogammaglobulinemia. Lancet 1 (1963) 859-860
347. Saouaf S.J., Mahajan S., Rowley R.B., Kut S.A., Fargnoli J., Burkhardt A.L., Tsukada S., Witte O.N., and Bolen J.B. Temporal differences in the activation of three classes of non-transmembrane protein tyrosine kinases following B cell antigen receptor surface engagement. Proc. Natl. Acad. Sci. USA 91 (1994) 9524-9528
348. Scher I. The CBA/N mouse strain: An experimental model illustrating the influence of the X chromosome on immunity. Adv. Immunol. 33 (1982) 1-71
349. Schimke R.N., Bolano C., and Kirkpatrick C.H. Immunologic deficiency in the congenital rubella syndrome. Am. J. Dis. Child. 118 (1969) 626-632
350. Schindelhauer D., Weiss M., Hellebrand H., Golla A., Hergersberg M., Seger R., Belohradsky B.H., and Meindl A. Wiskott-Aldrich syndrome: No strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. Hum. Genet. 98 (1996) 68-76
351. Schmalstieg F.C., Leonard W.J., Noguchi M., Berg M., Rudloff H.E., Denney R.M., Dave S.K., Brooks E.G., and Goldman A.S. Missense mutation in exon 7 of the common γ chain gene causes a moderate form of X-linking combined immunodeficiency. J. Clin. Invest. 95 (1995) 1169-1173
352. Schorle H., Holtschke T., Hunig T., Schimpl A., and Horak I. Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting. Nature 352 (1991) 621-624
353. Schwarz K., Nonoyama S., Peitsch M.C., de Saint Basile G., Espanol T., Fasth A., Fischer A., Freitag K., Friedrich W., Fugmann S., Hossle H.-P., Jones A., Kinnon C., Meindl A., Notarangelo L.D., Wechsler A., Weiss M., and Ochs H.D. WASPbase: A database of mutations causing Wiskott-Aldrich-Syndrome (WAS) and X-linked thrombocytopenia (XLT. Immunol Today 17 (1996) 496-502
354. Seyama K., Kira S., Ishidoh K., Souma S., Miyakawa T., and Kominami E. Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: Its implication to prenatal screening for X-linked hyper-IgM syndrome. Hum. Genet. 97 (1996) 180-185
355. Sharon M., Klausner R.D., Cullen B.R., Chizzonite R., and Leonard W.J. Novel interleukin-2 receptor subunit detected by cross-linked under high affinity conditions. Science 234 (1986) 859-863
356. Shimadzu M., Nunoi H., Terasaki H., Ninomiya R., Iwata M., Kanegasaka S., and Matsuda I. Structural organization of the gene for CD40 ligand: Molecular analysis for diagnosis of X-linked hyper-IgM syndrome. Biochim. Biophys. Acta 1260 (1995) 67-72
357. Shu U., Kiniwa M., Wu C.Y., Maliszewski C., Vezzio N., Hakimi J., Gately M., and Delespesse G. Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction. Eur. J. Immunol. 25 (1995) 1125-1128
358. Sideras P., Müller S., Shiels H., Jin H., Khan W.N., Nilsson L., Parkinson E., Thomas J.D., Brandén L., Larsson I., Paul W.E., Rosen F.S., Alt F.W., Vetrie D., Smith C.I.E., and Xanthopoulos K.G. Genomic organisation of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci. J. Immunol. 153 (1994) 5607-5618
359. Sideras P., Nilsson L., Islam K.B., Zalcberg-Guintana I., Freihof L., Rosén A., Juliusson G., Hammarström L., and Smith C.I.E. Transcription of unrearranged IgH chain genes in human B cell malignancies. J. Immunol. 149 (1992) 244-252
360. Sideras P., and Smith C.I.E. Molecular and cellular aspects of X-linked agammaglobulinemia. Adv. Immunol. 59 (1995) 135-223
361. Siegal F.P., Pernis B., and Kunkel H.G. Lymphocytes in human immunodeficiency states: A study of membrane-associated immunoglobulins. Eur. J. Immunol. 1 (1971) 482-486
362. Slack J., Der-Balian G.P., Nahm M., and Davie J.M. Subclass restriction of murine antibodies. II. The IgG plaque forming cell response to thymus independent type 1 and type 2 antigens in normal and mice expressing a X-linked immunodeficiency. J. Exp. Med. 151 (1980) 853-862
363. B genes in thymocytes from children with X-linked severe combined immunodeficiency disease. J. Immunol. 153 (1994) 442-448
364. Smith C.I.E., Baskin B., Humire-Greiff P., Zhou J.N., Olsson P.G., Maniar H.S., Kjellén P., Lambris J.D., Christensson B., Hammarström L., Bentley D., Vetrie D., Islam K.B., Vorechovsky I., and Sideras P. Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. J. Immunol. 152 (1994) 557-565
365. Smith C.I.E., Islam K.B., Vorechovsky I., Olerup O., Wallin E., Rabbani H., Baskin B., and Hammarström L. X-linked agammaglobulinemia and other immunoglobulin deficiencies. Immunol. Rev. 138 (1994) 159-183
366. Smith C.I.E., and Vihinen M. Immunodeficiency mutation databases-a new research tool. Immunol. Today 17 (1996) 495-496
367. Snyder P.W., Kazacos E.A., and Felsburg P.J. Histologic characterization of the thymus in canine X-linked severe combined immunodeficiency. Clin. Immunol. Immunopathol. 67 (1993) 55-67
368. Somberg R.L., Robinson J.P., and Felsburg P.J. T lymphocyte depletion and function in dogs with X-linked severe combined immunodeficiency. J. Immunol. 153 (1994) 4006-4015
369. Somberg R.L., Pullen R.P., Casal M.L., Patterson D.F., and Henthorn P.S. A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet. Immunol. Immunopathol. 47 (1995) 203-213
370. Somberg R.L., Tipold A., Hartnett B.J., Moore P.F., Henthorn P.S., and Felsburg P.J. Postnatal development of T cells in dogs with X-linked severe combined immunodeficiency. J. Immunol. 156 (1996) 1431-1435
371. Soong L., Xu J.-C., Grewal I.S., Kima P., Sun J., Longley Jr. B.J., Ruddle N.H., McMahon-Pratt D., and Flavell R.A. Disruption of CD40-CD40 ligand interactions results in an enhanced susceptibility to Leishmania amazonensis infection. Immunity 4 (1996) 263-273
372. Soothill J.F., Hayes K., and Dudgeon J.A. The immunoglobulins in congenital rubella. Lancet 1 (1966) 1385-1388
373. Spickett G.P., Misbah S.A., and Chapel H.M. Primary antibody deficiency in adults. Lancet 337 (1991) 281-284
374. Stahl N., Farrugella T.J., Boulton T.G., Zhong Z., Darnell J.E., and Yancopoulos G.D. Choice of STATs and other substrates specified by modular tyrosine-based motifs in cytokine receptors. Science 267 (1995) 1349-1353
375. Stewart D.M., Notarangelo L.D., Kurman C.C., Staudt L.M., and Nelson D.L. Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency. J. Immunol. 155 (1995) 2770-2774
376. Stewart D.M., Treiber-Held S., Kurman C.C., Facchetti F., Notarangelo L.D., and Nelson D.L. Studies of the expression of the Wiskott-Aldrich syndrome protein. J. Clin. Invest. 97 (1996) 2627-2634
377. Stiehm E.R., Chin T.W., Haas A., and Peerless A.G. Infectious complications of the primary immunodeficiencies. Clin. Immunol. Immunopathol. 40 (1986) 69-86
378. Sugamura K., Asao H., Kondo M., Tanaka N., Ishii N., Nakamura M., and Takeshita T. The common γ-chain for multiple cytokine receptors. Adv. Immunol. 59 (1995) 225-227
379. Sullivan K.E., Mullen C.A., Blaese R.M., and Winkelstein J.A. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J. Pediatr. 125 (1994) 876-885
380. Symons M., Derry J.M.J., Karlak B., Jiang S., Lemahieu V., McKormick F., Francke U., and Abo A. Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell 84 (1996) 723-734
381. Takeshita T., Asao H., Ohtani K., Kumaki S., Nakamura M., Tanaka N., Munakata H., Nakamura M., and Sugamura K. Cloning of the γ chain of the human IL-2 receptor. Science 257 (1992) 379-382
382. L. Tamagnone I. Lahtinen T. Mustonen K. Virtaneva F. Muscatelli F. Francis R. Alitalo C.I.E. Smith C. Larsson K. Alitalo BMX a novel cytoplasmic tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2 Oncogene 9 1994 3683 3688
383. Tassara C., Pepper A.E., and Puck J.M. Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Hum. Mol. Genet. 4 (1995) 1693-1695
384. Taylor N., Uribe L., Smith S., Jahn T., Kohn D.B., and Weinberg K. Correction of interleukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the γc gene. Blood 87 (1996) 3103-3107
385. Thomas J.D., Sideras P., Smith C.I.E., Vorechovsky I., Chapman V., and Paul W.E. Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. Science 261 (1993) 355-358
386. Thomis D.C., Gurniak C.B., Tviol E., Sharpe A.H., and Berg L.J. Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3. Science 270 (1995) 794-797
387. De Timmers E., Weers M., Alt F.W., Hendriks R.W., and Schuurman R.K.B. X-linked agammaglobulinemia. Clin. Immunol. Immunopathol. 61 (1991) 83-93
388. Tiselius A. Electrophoresis of serum globulin. II. Electrophoretic analysis of normal and immune sera. Biochem. J. 31 (1937) 1464-1477
389. Tiselius A., and Kabat E.A. Electrophoresis of immune serum. Science 87 (1939) 416-417
390. Tobler R., and Cottier H. Familiäre Lymphopenie mit Agammaglobulinämie und schwerer Moniliasis. Die "essentielle Lymphocytophthise" als besondere From der frühkindlichen Agammaglobulinämie. Helv. paediat. Acta. 13 (1958) 313-338
391. Torres R.M., Flaswinkel H., Reth M., and Rajewsky K. Aberrant B cell development and immune response in mice with a compromised BCR complex. Science 272 (1996) 1804-1808
392. Touhara K., Inglese J., Pitcher J.A., Shaw G., and Lefkowitz R.J. Binding of G protein βγ-subunits to pleckstrin homology domains. J. Biol. Chem. 269 (1994) 10217-10220
393. Tsuchiya S., Konno T., Tada K., and Ono Y. Epstein-Barr virus-induced lymphoblastoid cell lines from patients with primary immunodeficiency diseases. Scand. J. Immunol. 11 (1980) 155-162
394. Tsudo M., Kozak R.W., Goldman C.K., and Waldmann T.A. Demonstration of a non-Tac peptide that binds interleukin 2: A potential participant in a multichain interleukin 2 receptor complex. Proc. Natl. Acad. Sci. USA 83 (1986) 9694-9698
395. Tsukada S., Saffran D.C., Rawlings D.J., Parolini O., Allen R.C., Klisak I., Sparkes R.S., Kubagawa H., Mohandas T., Quan S., Belmont J.W., Cooper M.D., Conley M.E., and Witte O.N. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72 (1993) 279-290
396. Tsukada S., Simon M.I., Witte O.N., and Katz A. Binding of βγ subunits of heterotrimeric G-proteins to the PH domain of Bruton tyrosine kinase. Proc. Natl. Acad. Sci. USA 91 (1994) 11256-11260
397. Uckun F.M., Waddick K.G., Mahajan S., Jun X., Takata M., Bolen J., and Kurosaki T. BTK as a mediator of radiation-induced apoptosis in DT-40 lymphoma cells. Science 273 (1996) 1096-1100
398. van Verhoeven A.J.M., van Oostrum E.A., Haarlem H., and Akkerman J.W.N. Impaired energy metabolism in platelets from patients with Wiskott-Aldrich syndrome. Thromb. Haemost. 61 (1989) 10-14
399. Vestermark B., and Vestermark S. Familial sex-linked thrombocytopenia. Acta Paediatr. 53 (1964) 344-350
400. Vetrie D., Bentley D., Bobrow M., and Harris A. Physical mapping shows close linkage between the α-galactosidase A gene (GLA) and the DXS178 locus. Hum. Genet. 92 (1993) 95-99
401. Vetrie D., Bobrow M., and Harris A. Construction of a 5.2 mega-base physical map of the human X chromosome at Xq22 using pulsed-field gel electrophoresis and yeast artificial chromosomes. Genomics 15 (1993) 631-642
402. Vetrie D., Vorechovsky I., Sideras P., Holland J., Davies A., Flinter F., Hammarström L., Kinnon C., Levinsky R., Bobrow M., Smith C.I.E., and Bentley D.R. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein tyrosine kinases. Nature 361 (1993) 226-233
403. Vetrie D., Kendall E., Coffey A., Hassock S., Collins J., Todd C., Lehrach H., Bobrow M., Bentley D.R., and Harris A. A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22. Genomics 19 (1994) 42-47
404. Vihinen M., Brooimans R.A., Kwan S.-P., Lehväslaiho H., Litman G.W., Ochs H.D., Resnick I., Schwaber J.H., Vorechovsky I., and Smith C.I.E. BTKbase: X-linked agammaglobulinemia mutation registry. Immunol. Today 17 (1996) 502-506
405. Vihinen M., Cooper M.D., de Saint Basile G., Fischer A., Good R.A., Hendriks R.W., Kinnon C., Kwan S.P., Litman G.W., Notarangelo L.D., Ochs D., Rosen F.S., Vetrie D., Webster A.D.B., Zegers B.M.J., and Smith C.I.E. BTKbase: Database of XLA causing mutations. Immunol. Today 16 (1995) 460-465
406. Vihinen M., Iwata T., Kinnon C., Kwan S.-P., Ochs H., Vorechovsky I., and Smith C.I.E. BTKbase, mutation database for X-linked agammaglobulinemia (XLA. Nucleic Acids Res. 24 (1996) 160-165
407. Vihinen M., Nilsson L., and Smith C.I.E. Tec homology (TH) adjacent to the PH domain. FEBS Lett. 350 (1994) 263-265
408. Vihinen M., Nilsson L., and Smith C.I.E. Structural basis of SH2 domain mutations in X-linked agammaglobulinemia. Biochem. Biophys. Res. Commun. 205 (1994) 1270-1277
409. Vihinen M., and Smith C.I.E. Structural aspects of signal transduction in B cells. Crit. Rev. Immunol. (1996) in press
410. Vihinen M., Vetrie D., Maniar H.S., Ochs H.D., Zhu Q., Vorechovsky I., Webster A.D.B., Notarangelo L.D., Nilsson L., Sowadski J.M., and Smith C.I.E. Structural basis for chromosome X-linked agammaglobulinemia: A tyrosine kinase disease. Proc. Natl. Acad. Sci. USA 91 (1994) 12803-12807
411. Vihinen M., Zvelebil J.M.M.J., Zhu Q., Brooimans R.A., Ochs H.D., Zegers B.M.J., Nilsson L., Waterfield M.D., and Smith C.I.E. Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. Biochemistry 34 (1995) 1475-1481
412. Villa A., Notarangelo L.D., diSanto J.P., Macchi P., Strina D., Frattini A., Lucchini F., Patrosso C.M., Giliani S., Mantuano E., Agosti S., Nocera G., Kroczek R.A., Fischer A., Ugazio A.G., de Saint Basile G., and Vezzoni P. Organization of the human CD40 ligand gene: Implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc. Natl. Acad. Sci. USA 91 (1994) 2110-2114
413. Villa A., Notarangelo L., Macchi P., Mantuano E., Cavagni G., Brugnoni D., Strina D., Patrosso M.C., Ramenghi U., Sacco M.G., Ugazio A.G., and Vezzoni P. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat. Genet. 9 (1995) 414-417
414. Villa A., Strina D., Macchi P., Patrosso M.C., Vezzoni P., Tovo P.A., Giliani S., Ugazio A.G., and Notarangelo L.D. C to T mutation causing premature termination of CD40 ligand at aminoacid 221 in a patient affected by hyper IgM syndrome. Hum. Mutat. 3 (1994) 73-75
415. Vorechovsky I., Luo L., de Saint Basile G., Hammarström L., Webster A.D.B., and Smith C.I.E. Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinemia: Predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase. Hum. Mol. Genet. 4 (1995) 2403-2405
416. Vorechovsky, I., Luo, L., Hertz, J. M., Frøland, S. S., Klemola, T., Fiorini, M., Quinti, I., Paganelli, R., Ozsahin, H., Hammarström, L., Webster, A. D. B., and Smith, C. I. E.; Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. Hum. Mutat. 1996 (in press)
417. Vorechovsky I., Vetrie D., Holland J., Bentley D., Thomas K., Zhou J.-N., Notarangelo L.D., Plebani A., Fontan G., Ochs H.D., Hammarström L., Sideras P., and Smith C.I.E. Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22. Genomics 21 (1994) 517-524
418. Vorechovsky I., Vihinen M., de Saint Basile G., Honsová S., Hammarström L., Müller S., Nilsson L., Fischer A., and Smith C.I.E. DNA-based mutation analysis of Bruton's tyrosine kinase in patients. Hum. Mol. Genet. 4 (1995) 51-58
419. Vorechovsky I., Zhou J.N., Hammarström L., Smith C.I.E., Thomas J.D., Paul W.E., Notarangelo L.D., and Bernatowska M.E. Absence of xid mutation in X-linked agammaglobulinemia. Lancet 342 (1993) 552
420. Vorechovsky I., Zhou J.N., Vetrie D., Bentley D., Björkander J., Hammarström L., and Smith C.I.E. Molecular diagnosis of X-linked agammaglobulinemia. Lancet 341 (1993) 1153
421. Wakamiya M., Blackburn M.R., Jurecic R., McArthur M.J., Geske R.S., Cartwright J., Mitani K., Vaishnav S., Belmont J.W., Kellems R.E., Finegold M.J., Montgomery Jr. C.A., Bradley A., and Caskey C.T. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc. Natl. Acad. Sci. USA 92 (1995) 3673-3677
422. Waksman B.H., Arnason B.G., and Jankovic B.D. Role of the thymus in immune reactions in rats. III. Changes in the lymphoid organs of thymectomized rats. J. Exp. Med. 116 (1962) 187-205
423. Wallenborn P.A. Agammaglobulinemia: Report of two cases and review of the literature. Laryngoscope 70 (1960) 1-36
424. Weinberg K., and Parkman R. Severe combined immuno deficiency due to specific defect in the production of interleukin-2. N. Engl. J. Med. 322 (1990) 1718
425. Wengler G., Gorlin J.B., Williamson J.M., Rosen F.S., and Bing D.H. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood 85 (1995) 2471-2477
426. Wengler G.S., Allen R.C., Parolini O., Smith H., and Conley M.E. Nonrandom X chromosome inactivation in natural killer cells from obligate carriers of X-linked severe combined immunodeficiency. J. Immunol. 150 (1993) 700-704
427. Wengler G.S., Notarangelo L.D., Berardelli S., Pollonini G., Mella P., Fasth A., Ugazio A.G., and Parolini O. High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood 86 (1995) 3648-3654
428. West D.C., Hong R., and Holland N.H. Immunoglobulin levels from the newborn period to adulthood and in immunoglobulin deficiency states. J. Clin. Invest 41 (1962) 2054-2063
429. White J.G. Platelet disorders. Curr. Opin. Pediatr. 2 (1990) 130-133
430. Wiley J.A., and Harmsen A.G. CD40 ligand is required for resolution of Pneumocystis carinii infection in mice. J. Immunol. 155 (1995) 3525-3529
431. Wiskott A. Familiärer, angeborener Morbus Werlhofii?. Monatschrift Kinderheilk 68 (1937) 212-216
432. Witthuhn B.A., Silvennoinen O., Miura O., Lai K.S., Cwick C., Liu E.T., and Ihle J.N. Involvement of the JAK3 Janus kinase in IL-2 and IL-4 signalling in lymphoid and myeloid cells. Nature 370 (1994) 153-157
433. Wolff J.A. Wiskott-Aldrich syndrome: Clinical, immunologic, and pathologic observations. J. Pediatr. 70 (1967) 221-231
434. Xu J., Foy T.M., Laman J.D., Elliott E.A., Dunn J.J., Waldschmidt T.J., Elsemore J., Noelle R.J., and Flavell R.A. Mice deficient for the CD40 ligand. Immunity 1 (1994) 423-431
435. Yao L., Kawakami Y., and Kawakami T. The pleckstrin homology domain of Bruton tyrosine kinase interacts with protein kinase C. Proc. Natl. Acad. Sci. USA 91 (1994) 9175-9179
436. Yang W., Malek S.N., and Desiderio S. An SH3-binding site is conserved in Bruton's tyrosine kinase mediates specific protein interactions in vitro and in vivo. J. Biol. Chem. 270 (1995) 20832-20840
437. Yata J., and Tsukimoto I. Maturation of cell-surface structure of human B lymphocytes. Lancet 2 (1972) 1425
438. Yin T., Kellert S.R., Quelle F.W., Witthuhn B.A., Tsang M.L., Lienhard G.E., Ihle J.N., and Yang Y.C. Interleukin-9 induces tyrosine phosphorylation of insulin receptor substrate-1 via JAK tyrosine kinases. J. Biol. Chem. 270 (1995) 20497-20502
439. Yount W.J., Utsinger P.D., Whisnant J., and Folds J.D. Lymphocyte subpopulations in X-linked severe combined immunodeficiency (SCID): Evidence against a stem cell defect. Transformation response to calcium ionophore A23187. Am. J. Med. 65 (1978) 847-854
440. Zhang K., Clark E.A., and Saxon A. CD40 stimulation provides an IFN-γ-independent and IL-4 dependent differentiation signal directly to human B cells for IgE production. J. Immunol. 146 (1991) 1836-1842
441. Zhu Q., Zhang M., Blaese R.M., Derry J.M.J., Junger A., Francke U., Chen S.-H., and Ochs H.D. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 86 (1995) 3797-3804
442. Zhu Q., Zhang M., Rawlings D.J., Vihinen M., Hagemann T., Saffran D.C., Kwan S.-P., Nilsson L., Smith C.I.E., Witte O.N., Chen S.-H., and Ochs H.D. Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA. J. Exp. Med. 180 (1994) 461-470
443. Zhu Q., Zhang M., Winkelstein J., Chen S.-H., and Ochs D. Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. Hum. Mol. Genet. 3 (1994) 1899-1900