Primary immunodeficiency disorders pathogenesis and treatment

Clinical Immunotherapeutics

Volumn 5, Issue 2, 1996, Pages 137-160

  Eibl, Martha M ^a,b   Wolf, Hermann M ^a  

^a UNIVERSITY OF VIENNA   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN G;

B LYMPHOCYTE; BLOOD TRANSFUSION; BONE MARROW TRANSPLANTATION; CELL INTERACTION; GENE THERAPY; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INTRAVENOUS DRUG ADMINISTRATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; T LYMPHOCYTE; VACCINATION;

EID: 0030041732     PISSN: 11727039     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03259320     Document Type: Article

References (241)

1. Primary immunodeficiency diseases. Report of a WHO Scientific Group. Clin Exp Immunol 1995:99Suppl. 1:2-24
2. Waldmann TA, Nelson DL. Inherited immunodeficiencies. In: Frank MM, Austen KF. Claman HN. et al., editors. Samter's immunologie diseases. Boston: Little. Brown and Company. 1995:387-429
3. Buckley RH. Breakthroughs in the understanding and therapy of primary immunodeficiency. PediatrClin North Am 1994: 41: 665-90
4. Stiehm ER. New and old immunodeficiencies. Pediatr Res l993;33Suppl. I: S2-S8
5. Matsumoto S, Sakiyama Y. Ariga T, et al. Progress in primary immunodeficiency. Immunol Today 1992: 13: 4-5
6. Chapel HM. for the Consensus Panel for the Diagnosis and Management of Primary Antibody Deficiencies. Consensus on diagnosis and management of primary antibody deficiencies. BMJ 1994:308:581 5
7. Colten HR, Rosen FS. Complement deficiencies. Annu Rev Immunol 1992: 1(1: 809 34
8. Figueroa JE, Densen P Infectious disease associated with complement deficiencies. Clin Microbiol Rev 1991: 4: 359-95
9. Frank MM. Complement in disease: inherited and acquired complement deficiencies. In: Frank MM, Austen KF, Claman HN. et al., editors. Samter's immunologie diseases. Boston: Little. Brown and Company, 1995: 489-500
10. Rotrosen D, Gallin JI. Disorders of phagocyte function. Annu Rev Immunol 1987; 5: 127-50
11. Holland SM, Galiin JI. Neutrophil disorders. In: Frank MM. Austen KF. Claman HN. et al., editors. Samter's immunologie diseases. Boston: Little, Brown and Company, 1995: 529-50
12. Howard TH. Watts RG. Advances in pathophysiology. diagnosis, and treatment of neutrophil defects. Curr Opin Pediatr 1992:4: 991-8
13. Seeger RA, Berthe! F. Hossle JP. Chronic granulomatous disease. Pediatr Allergy Immunol 1992; 3: 1-10
14. Stiehm ER, Chin TW, Haas A. et al. Infectious complications of the primary immunodeficiencies. Clin Immunol Immunopathol 1986:40: 69
15. Bruton OC. Agammaglobulinemia. Pediatrics 1952; 9: 722 8
16. Rosen FS, Janeway C'A. The gamma globulins. III. The antibody deficiency syndromes. N Engl J Med 1966; 275: 709-15. 769-75
17. Sher A, Coffmann RL. Regulation of immunity to parasites by T cells and T cell-derived cytokines. Annu Rev Immunol 1992: 10: 385-409
18. Kaufmann SHE. Immunity to intracellular bacteria. Annu Rev Immunol 1993; II: 129-63
19. Doherty PC. Allan W, Eichelberger P, et al. Roles of a and y5 T cell subsets in viral immunity. Annu Rev Immunol 1992: 10: 123-51
20. Conley ME. Molecular approaches to analysis of X-linked immunodeficiencies. Annu Rev Immunol 1992; 10: 215-38
21. Gossage DL. Buckley RH. Prevalence of lymphopeniu in severe combined immunodeficiency [letter], N Engl J Med 1990; 323: 1422
22. Fahey JL, McKelvy EM. Quantitative determination of serum immunoglohulins in antibody-agar plates. J Immunol 1965; 94: 84
23. Mancini G, Carbonara AO. Heremans JF. Immunochemical quantitation of antigens by single radial diffusion. Immunochemistry 1965: 2: 235-54
24. Alper CA. Rosen FS. Complement in laboratory medicine. In: Vyas GN, Stites DP. Brecher G. editors. Laboratory diagnosis of immunologie disorders. New York: Grüne & Slratton, 1975:47-68
25. Miller ME. Nilsson UR. A familial deficiency of the phagoeytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement. N Engl J Med 1970: 282: 354-8
26. Park BH. Holmes B. Rodney GE. el al. Nitro-hlue tetrazolium test in children with fatal granulomatous disease and newborn infants. Lancet 1969: i: 157
27. Trush MA. Wilson ME. Van Dyke K. The generation of chemiluminescence (CL) by phagocytic cells. Methods En/ymol 1987:57:462-94
28. Quie PC, White JG. Holmes B, et al. In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease in childhood. J Clin Invest')967; 46: 668-79
29. Boyden S. The chemotactic effect of mixtures of antibody and antigen on polymorphonuclear leukocytes. J Exp Med 1962: 115:453-66
30. Ambrosino DM. Siber GR. Chilmonczyk BA, et al. An immunodeficiency characterized by impaired antibody responses to polysaccharides. New Engl J Med 1987; 316: 790-3
31. Rijkers GT. Sanders LAM, Zegers BJM. Anti-capsular polysaccharidc antibody deficiency states. Immunodeficiency 1993:5: 1-21
32. Pelotola H. Kâyhty H. Sivonen A, et al. Haemnphiliis infliienw type b capsular polysaccharide vaccine in children: a double blind tiled study of 100.000 vaccinées 3 months to 5 years of age in Finland. Pediatrics 1977; 60: 730-7
33. Barrett DJ. Lee CG, Ammann AJ. et al, IgG and IgM pneumococcal polysaccharide antibody responses in infants. Pediatr Res 1984: 18: 1067-71
34. Smith DH. Peter G, Ingram DL. et al. Responses of children immuniJ.ed with the capsular polysaccharide of Haemophilia infliienw type h. Pediatrics 1973: 52: 637-44
35. Siskind GW. Paterson PY. Thomas L. Induction of unresponsiveness and immunity in newborn and adult mice with pneumococcal polysaccharide. J Immunol 1963; 90: 929-34
36. Lerman SP. Romano TJ. Mond JJ. et al. Induction of primary and inhibition of secondary antibody response to hapten by hapten conjugates ol type III pneumococcal polysaccharide. Cell Immunol 1975; 15: 321-35
37. Romano TJ. Lerman SP. Thorbecke GJ. Mechanisms by which hapten conjugates of pneuinococcal polysaccharide interfere with the challenge of anti-hapten memory cells. Eur J Immunol 1976:6:434-42
38. Gordon EH. Krause A. Kinney JL. et al. Delayed cutaneous hypersensitivity in normals: choice ot antigens and comparison to in vitro assays of cell-mediated immunity. J Allergy Clin Immunol 1983: 72: 487-94
39. Weiss A. T lymphocyte activation. In: Paul WE. editor. Fundamental immunology. New York: Raven Press, 1993: 467-504
40. DeVaal OM. Seynhaeve V. Reticulur dysgenesia. Lancet 1959; it: 1123
41. Haas RJ, Niethammer D, Goldmann SF, et al. Congenital immunodeficiency and agranulocytosis (reticular dysgenesis). Ada Paediatr Sound 1977; 66: 279-83
42. Levinsky RJ. Tiedeman K. Successful bone marrow transplan talion for reticulur dysgenesis. Lancet 1983: i: 671-2
43. Ownby DR. Piz/o S. Blackmon L. et al. Severe combined immunodeficiency with leukopenia(reticulardysgenesis) in siblings: immunologie and histopathologic findings. J Pediatr 1976:89:382-7
44. Hitzig WH, Biro Z, Bosch H, et al. Agammaglobulinämie und Alymphozytose mit Schwund des lymphatischen Gewebes. Helv Pediatr Acta 1958; 13: 551-85
45. Hitzig WH. Kay HEM, Cottier H. Familial lymphopenia with agammaglobulinemia. An attempt at treatment by implantation of foetal thymus. Lancet 1965; ii: 151-4
46. Hitzig WH, Landolt R, Müller G, et al. Heterogeneity of phenotypic expression in a family with Swiss-type agammaglobulinemia: observations on thé acquisition of agammaglobulinemia. JPedialr 1971; 78:968-80
47. Cooper MD, Nishimoto N, Lassoned K, et al. Antibody deficiencies reflect abnormal B cell differentiation. In: Gergely J, Bennzur M, Erdei A, et al., editors. Progress in immunology, VIII ed. Berlin: Springer-Verlag, 1993: 535-43
48. Conley ME. B cells in patients with X-linked agammaglobulinemia. J Immunol 1985; 134: 3070-4
49. Campana D, Farrant J, Inamdar N, et al. Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia. J Immunol 1990; 145: 1675-80
50. Pearl ER, Vogler LB, Okos AJ, et al. B lymphocyte precursors in human bone marrow: an analysis of normal individuals and patients with antibody deficiency states. J Immunol 1978; 120: 1169-75
51. Vetrie D, Vorechovsky I, Sidéras P. et al. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases. Nature 1993; 361: 226-33
52. TsukadaS, Saffran DC, Rawlings DJ,etal. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993; 72: 279-90
53. Bolen JB. Nonreceptor tyrosine kinases. Oncogene 1993; 8: 2025-31
54. Weiss A. T cell antigen receptor signal transduction: a tale of tails and cytoplasmic protein-tyrosine kinases. Cell 1993; 73: 209-12
55. KishimotoT, TagaT, AkiraS. Cytokine signal transduclion.Cell 1994; 76: 253-62
56. Rawlings DJ, Witte ON. Bruton's tyrosine kinase is a key regulator in B cell development. Immunol Rev 1994; 138: 105-19
57. Saffran DC, Parolini O, Fitch-Hilgenberg ME, et al. A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. N Engl J Med 1994; 330: 1488-91
58. Buckley RH. Assessing inheritance of agammaglobulinemia. N Engl J Med 1994; 330: 1526-8
59. Kornfeld SJ, Good RA, Litman G. Atypical X-linked agammaglobulinemia [letter]. N Engl J Med 1994; 331: 949-50
60. Parolini O, Rohrer J. Comley ME. Atypical X-linked agammaglobulinemia [letter]. N Engl J Med 1994: 331: 950
61. Buckley RH. Atypical X-linked agammaglobulinemia (letter]. N Engl J Med 1994:331:950-1
62. Arai K. Lee F, Miyajima A, et al. Cytokines: coordinators of immune and inflammatory responses. Annu Rev Biochem 1990:59:783-836
63. Sato N, Miyajima A. Multimeric cytokine receptors: common versus specific functions. CurrOpin Cell Biol 1994; 6: 174-9
64. Foxwell BMJ, Barren K, Feldmann M. Cytokine receptors: structure and signal transduction. Clin Exp Immunol 199; 90: 161-9
65. Voss SD, Hong R, Sondel PM. Severe combined immunodeficiency, interleukin-2 (IL-2), and the IL-2 receptor: experiments of nature continue to point the way. Blood 1994; 83: 626-35
66. Kondo M, Takeshita T, Ishii N, et al. Sharing of the interleukin-2 (IL-2) receptor y chain between receptors for IL-2 and IL-4. Science 1993:262: 1874-7
67. Rüssel SM. Keegan AD, Harada N, et al. lnterleukin-2 receptor y chain: a functional component of the interleukin-4 receptor. Science 1993; 262: 1880-3
68. Noguchi M, Nakamura Y, Russell SM, et al. Interleukin-2 receptor y chain: a functional component of the interleukin-7 receptor. Science 1993; 262: 1877-80
69. Giri JG, Akdieh M, Eisenman J, et al. Utilization of the and the y chains of the IL-2 receptor by the novel cytokine IL-15. EMBOJ 1994; 13:2822-30
70. Leonhard WJ, Noguchi M, Russell SM, et al. The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor y chain as a common y chain, yc. Immunol Rev 1994; 138: 61-86
71. Kondo M, Takeshita T, Higuchi M, et al. Functional participation of the IL-2 receptorychain in IL-7 receptor complexes. Science 1994:263: 1453-4
72. Leonhard WJ. The defective gene in X-linked severe combined immunodeficiency encodes a shared interleukin receptor subunit: implications for cytokine pleiotropy and redundancy. Curr Opin Immunol 1994; 6: 631-5
73. Noguchi M, Huafang Y, Rosenblatt HM, et al. Interleukin-2 receptorychain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993: 73: 147-57
74. Puck JM, Deschenes SM, Porter JC, et al. The interleukin-2 receptor y chain maps to Xql3.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 1993; 2: 1099-104
75. Weinberg K, Parkman R. Severe combined immune deficiency due to a specific defect in interleukin-2 production. N Engl J Med 1990:322: 1718-23
76. Schorle H, Holtschke T, Hunig T, et al. Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting. Nature 1991; 352: 621-4
77. Schimpl A, Hunig T, Berberich I, et al. Lymphocyte development and immunoreactivity in IL-2 deficient mice. In: Gergely J, editor. Progress in immunology VIII. Proceedings of the 8th International Congress of Immunology. Berlin: Springer Verlag, 1992: 305-11
78. Macchi P, Villa A, Giliani S, et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 1995; 377: 65-8
79. Taniguchi T. Cytokine signaling through nonreceptor protein tyrosine kinases. Science 1995; 268: 251-5
80. Seligmann M, Autran B, Rabian C, et al. Profound and possibly primary 'idiopathic CD4+ T lymphocytopenia' in a patient with fungal infections. Clin Immunol Immunopathol 1994; 71:203-7
81. Sleasman JW, Tedder TF, Barren DJ. Combined immunodeficiency due to the selective absence of CD4 inducerT lymphocytes. Clin Immunol Immunopathol 1990; 55: 401-17
82. Roifman CM, Hummel D, Martinez-Valdez H. et al. Depletion of CD8+ cells in human thymic medulla results in selective immune deficiency. J Exp Med 1989; 170: 2177-82
83. Monat'o WJ, Polmar SH, Neudorf S, et al. A hereditary immunodeficiency characterized by CD8+ T lymphocyte deficiency and impaired lymphocyte activation. Clin Exp Immunol 1992; 90: 390-3
84. Elder ME, Lin D, Clever J, et al. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 1994; 264: 1596-9
85. Chan AC, Kadlecek TA, Elder ME, et al. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 1994; 264: 1599-601
86. Chan AC, Irving BA. Fraser JD, et al. The zeta chain is associated with a tyrosine kinase and upon T-cell antigen receptor stimulation associates with ZAP-70, a 70-kDa tyrosine phosphoprotein. Proc Natl Acad Sei USA 1991; 88: 9166-70
87. Wange RL, Kong AN, Samelson LE. Atyrosine-phosphorylated 70-kDa protein binds a photoaffinity analogue of ATP and associates with both the zeta chain and CD3 components of the activated T cell antiaen receptor. J Biol Chem 1992; 267: 11685-8
88. Chan AC, Iwashima M, Turck CW, et al. ZAP-70: a 70 kd protein-tyrosine kinase that associates with the TCR zeta chain. Cell 1992: 71: 649-62
89. Perlmutter RM, Levin SD. Appleby MW. et al. Regulation of lymphocyte function by protein phosphorylation. Annu Rev Immunol 1993; 11:451-99
90. Chan AC. Desai DM. Weiss A. The role of protein tyrosine kinases and protein tyrosine phosphatases in T cell antigen receptor signal transduction. Annu Rev Immunol 1994: 14: 555-92
91. Sprent J, Lo D, Gao EK, et al. T cell selection in the thymus. Immunol Rev 1988; 101: 173-90
92. Hong R. The DiGeorge anomaly. Immunodefic Rev 1991; 3: 1-14
93. Lammer EJ. Opitz JM. The DiGeorge anomaly as a developmental field defect. Am J Med Genet SuppI 1986: 2: 113-27
94. Bockman DE, Kirby ML. Dependence of thymus development on derivatives of the neural crest. Science 1984: 223: 498-500
95. Hirschhorn R. Adenosine deaminase deficiency. Immunodefic Rev 1990; 2: 175-98
96. Hirschhorn R. Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr Res 1993; 33 Suppl.: S35-S41
97. Morgan G, Levinsky RJ, Hugh-Jones K, et ai. Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency. Clin Exp Immunol 1987; 70: 491-9
98. Donofrio J. Coleman MS, Hutton JJ. et al. Overproduction of adenine deoxynucleosides and deoxynucleotides in adenosine deaminase deficiency with severe combined immunodeficiency disease. J Clin Invest 1978; 62: 884-7
99. Cohen AR, Hirschhorn R, Horowitz SD, et al. Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency. Proc Natl Acad Sei USA 1978: 75: 472-6
100. Hirschhorn R, Roegner-Maniscalco V, Kuritsky L, et al. Bone marrow transplantation only partially restores purine metabolites to normal in ADA deficient patients. J Clin Invest 1981 : 68: 1387-93
101. Polmar SH. Stern RC. Schwanz AL. et al. Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. N Engl J Med 1976; 295: 1337-43
102. Wilson JM, Mitchell BS, Daddona PE, et al. Purinogenic immunodeficiency diseases: differential effects of deoxyadenosine and deoxyguanosine on DNA synthesis in human T lymphoblasts. J Clin Invest 1979; 64: 1475-84
103. Carson DA, Kaye J, Seegmiller JE. Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside kinase(s). Proc Natl Acad Sei USA 1977; 24: 5677-81
104. Marker! ML. Purine nucleoside phosphorylase deficiency. Immunodefic Rev 1991 ; 3 ( I ): 45-81
105. Cohen A, Doyle D. Martin Jr DW, et al. Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. N Engl J Med 1976: 295: 1449-54
106. Arnaiz-Villena A, Timon M. Rodriguez-Gallego C. étal. Human T-cell activation deficiencies. Iminunol Today 1992; 13: 239-65
107. 1(17. Regueiro JR. Timon M. Ferez Aciego P. et al. From pathology to physiology of the human T-lymphocyte receptor. Scand J Immunol 1992: 36: 36.3-9
108. Regueiro JR. Perez-Aciego P. Aparicio P. et al. Low lgG2 and polysaccharide response in a T cell receptor expression defect. Eur J Immunol 1990:20:2411-6
109. Arnaiz-Villena A. Timon M. Corell A. et al. Primary immunodeficiency caused by mutations in the gene encoding the CD3-y subunit of the T-lymphocyte receptor. N Engl J Med 1992:327:529-33
110. AlarconB. Regueiro JR. Arnaiz-Villena A. et al. Familial defect in the surface expression of the T-eell receptor-CD3 complex. N Engl J Med 1988:319: 1203-8
111. Perez-Aciego P. Alarcon B. Arnaiz-Villena A. et al. Expression and function of a variant T cell receptor complex lucking CD3-y. J Exp Med 1991 ; 174: 319-26
112. Regueiro JR. Arnaiz-Villena A. de Landazuri MO, et al. Familial defect of CD3 (T3) expression by T cells associated with rare gut epithelial cell autoantibodies. Lancet I986:i: 1274-5
113. Regueiro JR. Lopez-Botet M. de Landazuri MO. et al. An iu vivo functional immune system lacking polyclonal T-cell surface expression of the CD3ATi ( WT31 ) complex. Scand J Immunol 1987; 26: 699-707
114. Soudais C. de Villartay JP. Le Deist F. et al. Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nature Genet 1993:3:77-81
115. LeDeist F. Thoenes G. Corado J, et al. Immunodeficiency with low expression of the T cell receptor complex. Effect on T lymphocyte activation. Eur J Immunol 1991:21: 1641 7
116. Thoenes G. Le Deist F, Fischer A. et al. Immunodeficiency associated with defective expression of the T-cell receptorCD.} complex [letter]. N Engl J Med 1990: 322: 1399
117. Thoenes G. Soudais C. Le Deist F. et al. Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. J Biol Chem 1992: 267: 487-93
118. ChatilaT. Wong R. Young M. et al. An immunodeficiency characterized by defective signal transduction in T lymphocytes. N Engl J Med 1989: 32(1: 696-702
119. DiSanto JP. KeeverCA. Small TN. et al. Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells. J Exp Med 1990; 171: 1697-704
120. Chatila T. Castigli E. Pahwa R. et al. Primary combined immunodeficiency resulting from defective transcription of multiple T-cell lymphokinè genes. Proc Natl Aead Sei USA 1990: 87: 10033-7
121. Castigli E. Pahwa R. Good RA. et al. Molecular basis of a multiple lymphokine deficiency in a patient with severe combined immunodeficiency. Proc Natl Acad Sei USA 1993: 90: 4728-32
122. Pahwa R, Chatila T. Pahwa S, et al. Recombinant interleukin 2 therapy in severe combined immunodeficiency disease. Proc Natl Acad Sei USA 1989: 86: 5069-73
123. Griscelli C. Lisowska-Grospierre B. Mach B. Combined immunodeficiency with detective expression in MHC class II genes. In: Rosen FS. Seligmann M. editors. Immunodeficiencies. Chur. Switzerland: Harwood Academic Publishers. 1993: 141-54
124. Mach B. Steimle V. Reith W. MHC class H-deficient combined immunodeficiency: a disease of gene regulation. Immunol Rev 1994: 138: 207-21
125. Klein C. Lisowska-Grospierre B. Le Deist F. et al. Major histo compatibility complex class II deficiency: clinical inanités-tations, immunologie features, and outeome. J Pediatr 1993: 123:921-8
126. Smith CIE, Bremard-Oury C, Le Deist F, et al. The antibody spectrum in individuals with defective expression of HLA class 11 and the LFA-1 glycoprotein family genes. Clin Exp Immunol 1988; 74: 449-53
127. de la Salle H, Hanau D. Fricker D, et al. Homozygous human TAP peptide transporter mutation in HLA class I deficiency [published erratum appears in Science 1994; 266: 1464]. Science 1994:265:237-41
128. Spriggs MK, Fanslow WC, Armitage RJ, et al. The biology of the human ligand for CD40. J Clin Immunol 1993; 13 (6): 373-80
129. Hendriks RW, Kraakman MEM, Craig IW, et al. Evidence lhat in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact. Eur J Immunol 1990; 20: 2603-8
130. Mayer L, Kwan SP, Thompson C, et al. Evidence for a defect in 'switch'T cells in patients with immunodeficiency and hyperimmunoglobulinemia M. N Engl J Med 1986; 314: 409-13
131. DiSanto JP, Bonnefoy JY, Gauchat JE, et al. CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM. Nature 1993:361:541-3
132. Ramesh N, Fuieihan R, Ramesh V, et al. Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). Int Immunol 1993; 5: 769-73
133. Alien RC, Armitage RJ, Conley ME. et al. CD40 ligand defects responsible for X-linked hyper-IgM syndrome. Science 1993; 259: 990-3
134. Aruffo A, Farrington M, Hollenbaugh D. et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked Hyper-IgM syndrome. Cell 1993; 72: 291-300
135. Korthäuser U, Graf D, Mages HW, et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 1993; 361: 539-41
136. KrocekRA, Graf D, Brugnon! D, étal. Defective expression of CD40 iigand on T cell causes 'X-linked immunodeficiency with hyper-IgM (HIGM1)'. Immunol Rev 1994; 138: 39-59
137. Farrington M, Grosmaire LS, Nonoyama S. et al. CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc Natl Acad Sei USA 1994; 91: 1099-103
138. Hermans PE, Diaz-Buxo JA, Stobo JD. Idiopathic late-onset immunoglobulin deficiency: clinical observations in 50 patients. Am J Med 1976; 61: 221 -37
139. Hausser C, Virelizier JL, Buriot D, et al. Common variable hypogammaglobulinemia in children: clinical and immunological observations in 30 patients. Am J Dis Child 1983; 137: 833-7
140. Sneller MC, Strober W, Eisenstein E, et al. NIH conference: new insights into common variable immunodeficiency. Ann Intern Med 1993; 118:720-30
141. Cunningham-Rundles C. Clinical and immunological analyses of 103 patients with common variable immunodeficiency. J Clin Immunol 1989; 9: 22-33
142. Durie FH, Foy TM, Masters SR, et al. The role of CD40 in the regulation of humoral and cell-mediated immunity. Immunol Today 1994; 15:406-11
143. Geha RS, Rosen FS. The genetic basis of immunoglobulin-class switching. N Engl J Med 1994; 330: 1008-9
144. Fischer MB, Hauber l, Vogel E, et al. Defective IL-2 and IFNgamma gene expression in response to antigen in a subgroup of CVID patients. J Allergy Clin Immun 1993; 92 (2): 340-52
145. Fischer MB, Wolf HM, Eggenbauer H, étal. The costimulatory signal CD28 is fully functional but cannot correct the impaired antigen response in T cells of patients with common variable immunodeficiency. Clin Exp Immunol 1994; 95: 209-14
146. Fischer MB, Hauber I, Eggenbauer H, et al. Adefect in the early phase of TCR-mediated T cell activation in patients with common variable immunodeficiency. Blood 1994; 84: 4234-41
147. Fischer MB, Hauber I, Wolf HM, et al. Impaired TCR signal transduction, but normal antigen presentation, in a patient with common variable immunodeficiency. Br J Haematol 1994; 88:520-6
148. Schaffer FM, Monteiro RC, Volanakis JE, et al. IgA deficiency. Immunodefic Rev 1991; 3: 15-44
149. Conley MA, Cooper MD. Immature IgA B cells in IgA-deficient patients. N Engl J Med 1981; 305: 495-7
150. Smith CIE, Islam KB, Vorechovsky I, et al. X-linked agammaglobulinemia and other immunoglobulin deficiencies. Immunol Rev 1994; 138: 159-83
151. Islam KB, Baskin B, NilssonL, étal. Molecular analysis of IgA deficiency. Evidence for impaired switching to IgA. J Immunol 1994; 152(3): 1442-52
152. Preud'homme JL, Hanson LA. IgG subclass deficiency. Immunodefic Rev 1990; 2 (2): 129-49
153. Hanson LA, Fasth A. IgG subclass deficiencies. Curr Opin Pediatr 1991; 3: 863-6
154. Hassan MS, Islam KB, Hammarström L, et al. Regulation of Cy3 expression: role of switch in the allotype-associated variation of human IgG3 levels. J Immunol 1992; 148: 2555-62
155. Umetsu DT, Ambrosino DM, Quinti I, et al. Recurrent sinopulmonary infection and impaired antibody response to bacterial capsular polysaccharide antigen in children with selective IgG-subclass deficiency. N Engl J Med 1985;3I3: 1245-51
156. Bernatowska-Matuszkiewicz E, Pac M, Skopcynska H, et al. Clinical efficacy of intravenous immunoglobulin in patients with severe inflammatory chest disease and IgG3 subclass deficiency. Clin Exp Immunol 1991; 85: 193-7
157. Herrod HG. Management of the patient with IgG subclass deficiency and/or selective antibody deficiency. Ann Allergy 1993; 70: 3-8
158. Puck JM. Molecular and genetic basis of X-Iinked immunodeficiency disorders. J Clin Immunol 1994; 14 (2): 81-9
159. Malcolm S, de Saint Basile G, Arveiler B, et al. Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA). Hum Genet 1987; 77: 172-4
160. Lovering R. Middleton-Price HR, O'Reilly MA, et al. Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22. Hum Mol Genet 1993; 2(2): 139-41
161. Padayachee M, Feighery C, Finn A, et al. Mapping of the Xlinked form of hyper IgM syndrome (HIGMI ) to Xq26 by close linkage to HPRT. Genomics 1992; 14: 551-3
162. Padayachee M, Levinsky RJ. Kinnon C, et al. Mapping of the X linked form of hyper IgM syndrome (HIGM I ). J Med Genet 1993; 30: 202-5
163. Graf D, Korthäuser U, Mages HW, et al. Cloning of TRAP, a ligand forCD40 on human T cells. Eur J Immunol 1992; 22: 3191-4
164. Mensink EJ, Thompson A, Sandkuyl LA, et al. X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus. Hum Genet 1987; 76: 96-9
165. Markiewicz S, DiSanto JP, Chelly J, et al. Fine mapping of the human SCIDX1 locus at Xql2-I3.l. Hum Mol Genet 1993: 2 (6): 65 1-4
166. Sullivan KE, Müllen ÇA, Blaese RM, et al. A multiinstitutional survey of the Wiskott-AIdrich syndrome. J Pediatr 1994: 125: 876-85
167. Sullivan JL. Woda B A. X-linked lymphoproliferative syndrome. Immunodet'ic Rev 1989: 1(4): 325-47
168. KwanSP. Lehner T. Hagemann T, et al. Localization of the gene for thé Wiskott-AIdrich syndrome between two Hanking markers, TIMPand DXS255, on Xp 11.22-Xp 11.3. Genomics 1991; 10(1): 29-33
169. Skare JC, Sullivan JL. Milunsky A. Mapping the position of the locus of the X-linked lymphoproliferative syndrome in relation to loci of restriction fragment length polymorphisms on Xq. Hum Genet 1989; 82: 349-53
170. Marker! ML. Hershfield MS, Wiginton DA. et al. Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. J Immunol 1987: 138: 3203-6
171. Alarcon B. Terhorst C, Arnaiz-Villena A, et al. Congenital T-cell receptor immunodeficiencies in man. Immunodefic Rev 1990; 2: 1-16
172. Lefranc MP, Hammarstrom L. Smith CI. et al. Gene deletions in the human immunoglobulin heavy chain constant region locus: molecular and immunological analysis. Immunodefic Rev 1991; 2 (4): 265-81
173. Zegers BJM. Maertzdort WJ. van Loghem E, et al. Kappa-chain deficiency: an immunoglobulin disorder. N Engl J Med 1976; 294: 1026-30
174. Stavnezer-Nordgren J, Kekish O, Zegers BJ. Molecular defects in a human immunoglobulin kappa chain deficiency. Science 1985: 230 (4724): 458-61
175. de Preval C, Lisowska-Grospierre B, Loche M, et al. A transacting class II regulatory gene unlinked to the MHC controls expression of HLA class fl genes. Nature 1985: 318: 291 -3
176. Hume CR. Lee JS. Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors. Hum Immunol 1989:26:288-309
177. Benichou B, Strominger JL. Class II antigen-negative patient and mutant cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis. Proc Natl Acad Sei USA 1991; 88: 4285-8
178. Yang Z, Accolla RS, Pious D. et al. Two distinct genetic loci regulating class II gene expression are defective in human mutant and patient cell lines. EMBOJ 1988:7: 1965-72
179. Anderson DC, Springer TA. Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p 150.95 glycoproteins. Annu Rev Med 1987: 38: 175-94
180. DiSanto JP, Markiewicz S. Gauchat J-F, et al. Brief report: prenatal diagnosis of X-linked hyper-IaM syndrome. N Ensl J Med 1994:330:969-73
181. Puck JM. Krauss CM. Puck SM. et al. Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis. N Eniil J Med 1990: 322: 1063-6
182. Lovering R. Sweatman AK. O'Reilly MA. et al. Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. Hum Genet 1993 Mar: 91 (2): 178-8(f
183. Alien RC. SpriggsMK, Belmont JW. Dinucleotide repeat poly morphism in the human CD40 ligand gene. Hum Mol Genet 1993:2:828
184. Orita M. Iwahana H. Kanazawa H, et al. Detection of polymorphisms of human DNAby gel electrophoresis as single-strand conformation polymorphisms. Proc Null Acad Sei USA 19S9: 86: 2766-70
185. Bradley LA. Sweatman AK. Lovering RC, el al. Mutation detection in the X-linked agammaglobuiinemia gene. BTK. using single strand conformation polymorphism analysis. Hum Mol Genet 1994:3: 79-83
186. Vorechkovskv 1. Zhou JN. Vetrie D. et al. Molecular diagnosis of X-linked agammaglobulinaemia [letter]. Lancet 1993: 341: 1153
187. Wengier GS. Allen RC. Parolini O. et al. Nonrandom X chromosome inactivation in natural killer cells from obligate carriers of X-linked severe combined immunodeficiency. Jltnmunol 1993; 150:700-4
188. Conley ME. Brown P. Pickard AR, et al. Expression of the gene defect in X-linked agammaglobuiinemia. N Engt J Med 1986: 315:564-7
189. Conley ME. Lav oie A. Briggs C. et al. Nonrandom X chromosome inactivation in B cells from carriers of X chromosomelinked severe combined immunodeficiency. Proc Natl Acad Sei USA 1988; 85: 3090-4
190. Puck JM, Nussbaum RL. Conley ME. Carrier detection in Xlinked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest 1987:79: 1395-400
191. Conley ME. Parolini O. Rohrer J, el al. X-linked agammaglobu linemia: new approaches to old questions based on the identification of the defective gene. Immunol Rev 1994;138:5-21
192. Altennan LA, Dealwis M. Genet S, et al. Carrier determination for X-linked agammaglobuiinemia using X inactivation analysis of purified B cells. J Immunol Methods 1993; 166(1): 111-6
193. Hendriks RW, De Weers M, Mensink RG, et al. Diagnosis of Wiskott-Aldrich syndrome by analysis of the X chromosome inactivation patterns in maternal leucocyte populations using the hypervariable DXS255 locus. Clin Exp Immunol 1991; 84(21:219-22
194. Puck JM. Siminovitch KA, Poncz M. et al. Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation. Blood 1990; 75 (12): 2369-74
195. Notarangelo LD. Parolini Ü, Albertini A, et al. Analysis of Xchromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1 ): evidence for involvement of different heinatopoietic cell lineages. Hum Genet 1991; 88: 130-4
196. Fischer A. Friedrich W, Levinsky R. et al. Bone marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985. Lancet 1986: 2: 1080-3
197. Armitage JO. Bone marrow transplantation. N Enül J Med 1994:330:827-38
198. Parkman R. The application of bone marrow transplantation to the treatment of genetic diseases. Science 1986; 232: 1371-8
199. Parkman R. The biology of bone marrow transplantation for severe combined
200. Reisner Y, Kapoor N. Kirkpatrick D. et al. Transplantation for severe combined immunodeficiency w ith HLA-A.B.D,Dr incompatible parental marrow fractionated by soybean agglu tinin and sheep red blood cells. Blood 1983; 61: 341-8
201. Reinherz EL. Geha R. Rappeport JM. et al. Reconstitution after transplantation with T-lymphocyte-depleted HLA haplotypemismatched bone marrow for severe combined immunodeficiency. Proc Natl Acad Sei USA 1982: 79: 6047-51
202. O'Reilly R. KeeverCA, Small TN. et al. The use of HLA-nonidentical T-cell depleted marrow transplants for correction of severe combined immunodeficiency disease. In: Rosen FS.
203. Seligmann M, editors. Immunodeficiencies. Chur, Switzerland: Harwood Academic Publishers, 1993: 689-716
204. Parkman R. Human graft-versus-host disease. Immunodefic Rev 1991; 2 (4): 253-64
205. Sullivan KM, Parkman R. The pathophysiology and treatment of gral't-versus-host diseuse. Clin Haematol 1983; 12 (3): 775-89
206. Sullivan KM, Kopecky KJ, Jocom J, et al. Immunomodulatory and antimicrobial efficacy of intravenous immunoglobulin in bone marrow transplantation. N Engl J Med 1990; 323: 705-12
207. Polmar SH, Wetzler EM, Stern RC, et al. Restoration of in vivo lymphocyte responses with exogenous adenosine deaminase in a patient with severe combined immunodeficiency. Lancet 1975; ii: 743-6
208. Rubinstein A, Hirschhorn R, Sicklick M, et al. In vivo and in vitro effects of thymosin and adenosine deaminase on adenosine-deaminase-deficient lymphocytes. N Engl J Med 1979; 300:387-92
209. Schmalsteig FC, Mills GC, Nelson JA, et al. Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency. J Pediatr 1978; 93: 597-603
210. Hershfield MS, Buckley RH, Greenberg ML, et al. Treatment of adenosine deaminase deficiency with polyethylene glycol modified adenosine deaminase. N Engl J Med 1987; 316: 589-96
211. Blaese RM. Development of gene therapy for immunodeficiency: adenosine deaminase deficiency. Pediatr Res 1993; 33 (1 Suppl.): S49-53
212. Blaese RM, Culver KW. Gene therapy for primary immunodeficiency disease. Immunodefic Rev 1992; 3 (4): 329-49
213. Culver KW. Osborne WR, Miller AD, et al. Correction of ADA deficiency in human T lymphocytes using retroviral-mediated gene transfer. Transplant Proc 1991 ; 23: 170-1
214. Eibl MM, Wedgwood RJ. Intravenous immunoglobulin: a re view. Immunodefic Rev 1989; 1 Suppl.: 1-42
215. Fischer GW. Uses of intravenous globulin to prevent or treat infections. Adv Pediatr Infect Dis 1992; 7: 85-108
216. Siber GR, Snydman DR. Use of immune globulins in the prevention and treatment of infections. Curr Clin Top Infect Dis 1992; 12: 208-56
217. NIH Consensus Conference. Intravenous immunoglobulin. Prevention and treatmentofdisea.se. JAMA 1990; 264: 3189-93
218. Haeney M. Intravenous immune globulin in primary immunodeficiency. Clin EXD Immunol 1994; 97 Suppl. 1: 11-5
219. Buckley RH, Schiff RI. The use of intravenous immune globulin in immunodeficiency diseases. N Engl J Med 1991; 325: 110-7
220. Berger M, Cupps T, Fauci AS. Immunoglobulin replacement therapy by slow subcutaneous infusion. Ann Intern Med 1980; 93: 55-6
221. Ugazio AG, Duse M, Re R, et al. Subcutaneous infusion of gammaglobulins in management of agammaglobulinaemia. Lancet 1982; 1:226
222. Remvig L, Andersen V, Hansen NE. et al. Prophylactic effect of self-administered pump-driven subcutaneous IgG infusion in patients with antibody deficiency: a triple-blind cross-over study comparing P-IgG levels of 3 g I ' versus 6 g I'1. J Intern Med 1991:229:73-7
223. Gardulf A, Hammarström L, Smith CIE. Home treatment of hypogammaglobulinemia with subcutaneous gammaglobulin by rapid infusion. Lancet 1991; 338: 162-6
224. Waniewski J, Gardulf A, Hammarström L. Bioavailability of y-globulin after subcutaneous infusions in patients with com-mon variable immunodeficiency. J Clin Immunol 1994; 14: 90-7
225. Ochs HD, Fischer SH, Lee ML, et al. Intravenous immunoglobulin home treatment for patients with primary immunodeficiency disease. Lancet 1986; 1:610
226. Ashida ER, Saxton A. Home intravenous immunoglobulin therapy by self administration. J Clin Immunol 1986; 6: 306-9
227. Chapel H, Brennan V, Delson E. Immunoglobulin replacement therapy by self-infusion at home. Clin Exp Immunol 1988; 73: 160-2
228. Kobayashi RH, Kobayashi AD, Lee N, et al. Home self-administration of intravenous immunoglobulin therapy in children. Pediatrics 1990; 85: 705-9
229. Chapel H, Brennan V. Self-infusion with immunoglobulin at home. J Clin Pathol 1991; 44: 358-9
230. Bernatowska E, Madalinski K, Janowicz W, et al. Results of a prospective controlled two-dose crossover study with intravenous immunoglobulin and comparison (retrospective) with plasma treatment. Clin Immunol Immunopathol 1987; 4.3: 153-62
231. Gelfand EW, Reid B, Roifman CM. Intravenous immune serum globulin replacement in hypogammaglobulinemia: a comparison of high- versus low-dose therapy. Monogr Allergy 1988; 2.3: 177-86
232. Duhem C, Dicato MA, Ries F. Side-effects of intravenous immune globulins. Clin Exp Immunol 1994; 97 Suppl. 1: 79-83
233. Misbah SA, Chapel HM. Adverse effects of intravenous immunoglobulin. Drug Saf 1993; 9: 254-62
234. Koistinen J. Heikkila M, Leikola J. Gammaglobulin treatment and anti-lgA antibodies in IgA-deficient patients. BMJ 1978; 2: 923-4
235. Burks AW, Sampson HA. Buckley RH. Anaphylactic reactions after gammaglobulin administration in patients with hypogammaglobulinemia: detection of IgE antibodies to IgA. NEngl JMed 1986; 314: 560
236. Bjorkander J, Cunningham-Rundles C, Lundin P. et al. Intravenous immunoglobulin prophylaxis causing liver damage in 16 of 77 patients with hypogammaglobulinemia or IgG subclass deficiency. Am J Med 1988;84: 107-11
237. Lever AML, Brown D, Webster ADB. et al. Non-A non-B hepatitis occurring in agammaglobulinaemic patients after intravenous immunoglobulin. Lancet 1984; 2: 1062-4
238. Ochs HD, Fischer SH, Virant FS, et al. Non-A non-B hepatitis and intravenous immunoglobulin [letter]. Lancet 1985; 1: 404-5
239. Williams PE, Yap PL, Gillon J, et al. Transmission of non-A non-B hepatitis by pH4 treated intravenous immunoglobulin. Vox Sang 1989; 57: 15-8
240. Bjoro K, Froland SS, Yun Z, et al. Hepatitis C infection in patients with primary hypogammaglobulinemia after treatment with contaminated immune globulin. N Engl J Med 1994; 331: 1607-11
241. Centers for Disease Control and Prevention. Outbreak of hepatitis C associated with intravenous immunoglobulin administration - United States, October 1993-June 1994. JAMA 1994; 272: 424-5