X-linked agammaglobulinemia: A clinical and molecular analysis

Medicine

Volumn 75, Issue 6, 1996, Pages 287-299

  Ochs, Hans D ^a,b   Smith, C I Edvard ^c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b NOVUM   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

B LYMPHOCYTE; BACTERIAL INFECTION; GENETIC ORGANIZATION; GROWTH HORMONE DEFICIENCY; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; LIVER FUNCTION; LYMPHOCYTE ACTIVATION; MOLECULAR GENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; ANIMALS; B-LYMPHOCYTES; HUMANS; LINKAGE (GENETICS); LYMPHOPENIA; POINT MUTATION; PROTEIN-TYROSINE KINASES; X CHROMOSOME;

EID: 0030475849     PISSN: 00257974     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005792-199611000-00001     Document Type: Review

References (134)

1. Ackerson BK, Raghunathan R, Keller MA, Bui RHD, Phinney PR, Imagawa DT. Echovirus 11 arthritis in a patient with X-linked agammaglobulinemia. Pediatr Infect Dis 6: 486-88, 1987.
2. Aiuti F, Lacava V, Fiorilli MB. Lymphocytes in agammaglobulinemia. Lancet 2: 761, 1972.
3. Ament ME, Ochs HD, Davis SD. Structure and function of the gastrointestinal tract in primary immunodeficiency syndromes. A study of 39 patients. Medicine (Baltimore) 52: 227-48, 1973.
4. Avasthi PS, Avasthi P, Tung KSK. Glomerulonephritis in agammaglobulinemia. Br Med J 2: 478, 1975.
5. Bardelas JA, Winkelstein JA, Seto DS, Tsai T, Roger AD. Fatal ECHO 24 infection in a patient with hypogammaglobulinemia: Relationship to dermatomyositis-like syndrome. J Pediatr 90: 396-8, 1977.
6. Bentwich Z, Kunkel HG. Specific properties of human B and T lymphocytes and alterations in disease. Transplant Rev 16: 29-50, 1973.
7. Bjøro K, Frøland SS, Yun Z, Samdal HH, Hamand T. Hepatitis C infection in patients with primary hypogammaglobulinemia after treatment with contaminated immune globulin. N Engl J Med 331: 1607-11, 1994.
8. Bolen JB. Protein tyrosine kinases in the initiation of antigen receptor signaling. Curr Opin Immunol 7: 306-11, 1995.
9. Bruton OC. Agammaglobulinemia. Pediatrics 9: 722-8, 1952.
10. Buckley RH, Rowlands DT Jr. Agammaglobulinemia, neutropenia, fever, and abdominal pain. J Allergy Clin Immunol 51: 308-18, 1973.
11. Campana D, Farrant J, Inamdar N, Webster ADB, Janossy G. Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia. J Immunol 145: 1675-1680, 1990.
12. Chusid MJ, Coleman CM, Dunne WM. Chronic asymptomatic campylobacter bacteremia in a boy with X-linked hypogammaglobulinemia. Pediatr Infect Dis J 6: 943-4, 1987.
13. Ciliberti MD, Zweiman B, Atkins PC, Levinson AI, Mittl RL, Phillips DM. Chronic enteroviral meningoencephalitis in X-linked agammaglobulinemia: Prolonged survival with the use of intrathecal therapy. Immunol Allerg Prac 16: 7-10, 1994.
14. Conley ME, Burks AW, Herrod HG, Puck JM. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr 119: 392-7, 1991.
15. Conley ME, Puck JM. Carrier detection in typical and atypical X-linked agammaglobulinemia J Pediatr 112: 688-94, 1988.
16. Conley ME. B cells in patients with X-linked agammaglobulinemia. J Immunol 134: 3070-4, 1985.
17. Cooper DN, Krawczak M. Human gene mutation. Oxford, UK: Bios Scientific, pp. 1-402, 1993.
18. Cooper MD, Lawton AR. Circulating B-cells in patients with immunodeficiency. Am J Pathol 69: 513-28, 1972.
19. Czernilofsky AP, Levinson AD, Varmus HE, Bishop JM, Tischer E, Goodman HM. Nucleotide sequence of an avian sarcoma virus oncogene (src) and proposed amino acid sequence for gene product. Nature 287: 198-203, 1980.
20. de Weers M, Mensink RGJ, Kraakman MEM, Schuurman RKB, Hendriks RW. 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: 161-6, 1994.
21. de Weers M, Verschuren MCM, Kraakman MEM, Mensink RGJ, Schuurman RKB, van Dongen JJM, Hendriks RW. 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: 3109-14, 1993.
22. Dubois RS, Roy CC, Fulginiti VA, Merrill DA, Murray RL. Disaccharidase deficiency in children with immunologic deficits. J Pediatr 76: 377-85, 1970.
23. Erlendsson K, Swartz T, Dwyer JM. Successful reversal of echovirus encephalitis in X-linked hypogammaglobulinemia by intraventricular administration of immunoglobulin. N Engl J Med 312: 351-3, 1985.
24. Fearon ER, Winkelstein JA, Civin CI, Pardoll DM, Vogelstein B. Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N Engl J Med 316: 427-31, 1987.
25. Fleisher TA, White RM, Broder S, Nissley SP, Blaese RM, Mulvihill JJ, Olive G, Waldmann TA. X-linked hypogammaglobulinemia and isolated growth hormone deficiency. N Engl J Med 302: 1429-34, 1980.
26. Foy HM, Ochs HD, Davis SD, Kenny GE, Luce RR. Mycoplasma pneumoniae infections in patients with immunodeficiency syndromes: Report of four cases. J Infect Dis 127: 388-93, 1973.
27. Gardulf A, Andersen V, Björkander J, Ericson D, Frøland SS, Gustafson R, Hammarström L, Jacobsen MB, Jonsson E, Möller G, Nyström T, Søeberg B, Smith CIE. Subcutaneous immunoglobulin replacement in patients with primary antibody deficiencies: Safety and costs. Lancet 345: 365-9, 1995.
28. Gardulf A, Hammarström L, Smith CIE. Home treatment of hypogammaglobulinaemia with subcutaneous gammaglobulin by rapid infusion. Lancet 338: 162-6, 1991.
29. Geha RS, Rosen FS, Merler E. Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin. The cellular defect in X-linked agammaglobulinemia. J Clin Invest 52: 1726-34, 1973.
30. Gitlin D, Janeway CA, Apt L, Craig JM. Agammaglobulinemia. In: Lawrence HS, ed. Cellular and humoral aspects of the hypersensitivity states: A symposium. New York: Hoeber-Harper, pp. 375-441, 1959.
31. Good RA, Rolstein J, Mazzitello WF. The simultaneous occurrence of rheumatoid arthritis and agammaglobulinemia. J Lab Clin Med 49: 343-57, 1957.
32. Good RA, Zak SJ. Disturbances in gamma globulin synthesis as "experiments of nature." Pediatrics 18: 109-49, 1956.
33. Gotoff SP, Smith RD, Sugar O. Dermatomyositis with cerebral vasculitis in a patient with agammaglobulinemia. Am J Dis Child 123: 53-6, 1972.
34. Guioli S, Arveiler B, Bardoni B, Notarangelo LD, Panina P, Duse M, Ugazio A, Oberlé I, de Saint Basile G, Mandel JL, Camerino G. Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. Hum Genet 84: 19-21, 1989.
35. Hagemann TL, Chen Y, Rosen, FS, Kwan S-P. Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. Hum Mol Genet 3: 1743-9, 1994.
36. Haire RN, Ohta Y, Lewis JE, Fu SM, Kroisel P, Litman GW. TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12. Hum Mol Genet 3: 897-901, 1994.
37. Hammon W, Coriell LL, Stokes J. Evaluation of Red Cross gammaglobulin as a prophylaxis agent for poliomyelitis. JAMA 150: 739-60, 1952.
38. Hanks SK, Quinn AM, Hunter T. The protein kinase family: Conserved features and deduced phylogeny of the catalytic domains. Science 241: 42-52, 1988.
39. Haraldsson A, van der Burgt CJAM, Weemaes CMR, Otten B, Bakkeren JAJM, Stoelinga, GBA. Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. Eur J Pediatr 152: 509-19, 1993.
40. Healey CJ, Sabharwal NK, Daub J, Davidson F, Yap P-L, Fleming KA, Chapman RWG, Simmonds P, Chapel H. Outbreak of acute hepatitis C following the use of anti-hepatitis C virus - Screened intravenous immunoglobulin therapy. Gastroenterology 110: 1120-6, 1996.
41. Hermaszewski RA, Webster ADB. Primary hypogammaglobulinaemia: A survey of clinical manifestations and complications. Q J Med 86: 31-42, 1993.
42. Heyeck SD, Berg LJ. Developmental regulation of a murine T-cell-specific tyrosine kinase gene, Tsk. Proc Natl Acad Sci U S A. 90: 669-73, 1993.
43. Himmelmann A, Thevenin C, Harrison K, Kehrl JH. Analysis of the Bruton's tyrosine kinase gene promoter reveals critical PU.1 and SP1 sites. Blood 87: 1036-44, 1996.
44. Hu Q, Davidson D, Schwartzberg PL, Macchiarini F, Lenardo MJ, Bluestone JA, Matis LA. Identification of Rlk, a novel protein tyrosine kinase with predominant expression in the T cell lineage. J Biol Chem 270: 1928-34, 1995.
45. Ihle JN. Cytokine receptor signaling. Nature 377: 591-4, 1995.
46. Ipp MM, Gelfand EW. Antibody deficiency and alopecia. J Pediatr 89: 728-31, 1976.
47. Janeway CA, Apt L, Gitlin D. Agammaglobulinemia. Trans Assoc Am Physicians 66: 200-2, 1953.
48. Jin H, Webster ADB, Vihinen M, Sideras P, Vorechovsky I, Hammarström L, Bernatowska-Matuszkiewicz E, Smith CIE, Bobrow M, Vetrie D. Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinemia (XLA). Hum Mol Genet 4: 693-700, 1995.
49. Johnson PR Jr, Edwards KM, Wright PF. Failure of intraventricular gamma globulin to eradicate echovirus encephalitis in a patient with X-linked agammaglobulinemia. N Engl J Med 313: 1546-7, 1985.
50. Junker AK, Dimmick JE. Progressive generalized edema in an 8-year-old boy with agammaglobulinemia. J Pediatr 101: 147-53, 1982.
51. Kwan S-P, Kunkel L, Bruns G, Wedgwood RJ, Latt S, Rosen FS. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest 77: 649-52, 1986.
52. Kwan S-P, Terwilliger J, Parmely R, Raghu G, Sandkuyl LA, Ott J, Ochs HD, Wedgwood R, Rosen F. Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus. Genomics 6: 238-42, 1990.
53. Kwan S-P, Walker AP, Hagemann T, Gupta S, Vayuvegula B, Ochs HD. A new RFLP marker, SP282, at the Btk locus for genetic analysis in X-linked agammaglobulinemia families. Prenat Diagn 14: 493-6, 1994.
54. Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: An analysis of 96 patients. Medicine (Baltimore) 64: 145-56, 1985.
55. Leickley FE, Buckley R. Variability in B cell maturation and differentiation in X-linked agammaglobulinemia. Clin Exp Immunol 65: 90-9, 1986.
56. Lever AML, Webster ADB, Brown D, Thomas HC. Non-A, Non-B hepatitis occurring in agammaglobulinemic patients after intravenous immunoglobulin. Lancet 2: 1062-4, 1984.
57. Levitt D, Ochs HD, Wedgwood RJ. Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM. J Clin Immunol 4: 143-50, 1984.
58. Liese JG, Wintergerst U, Tympner KD, Belohradsky BH. High vs. low-dose immunoglobulin therapy in the long-term treatment of X-linked agammaglobulinemia. Am J Dis Child 146: 335-9, 1992.
59. Macchi P, Villa A, Gillani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Condotti F, O'Shea JJ, Vezzoni P, Notarangelo LD. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 377: 65-8, 1995.
60. Malcolm S, de Saint Basile G, Arveiler B, Lau YL, Szabo P, Fischer A, Griscelli C, Debre M, Mandel JL, Callard RE, Robertson ME, Goodship JA, Pembrey ME, Levinsky RJ. Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinemia (XLA). Hum Mol Genet 77: 172-4, 1987.
61. Mano H, Mano K, Tang B, Koehler M, Yi T, Gilbert DJ, Jenkins NA, Copeland NG, Due JN. Expression of a novel form of Tec kinase in hematopoietic cells and mapping of the gene to chromosome 5 near Kit. Oncogene 8: 417-24, 1993.
62. Mattsson PT, Vihinen M, Smith CIE. X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease. Bioessays 18: 825-34, 1996.
63. McKinney RE, Katz SL, Wilfert CM. Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. Rev Infect Dis 9: 334-56, 1987.
64. McLaughlin JF, Schaller J, Wedgwood RJ. Arthritis and immunodeficiency. J Pediatr 81: 801-3, 1972.
65. Mease PJ, Ochs HD, Wedgwood RJ. Successful treatment of echovirus meningoencephalitis and myositis-fasciitis with intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia. N Engl J Med 304: 1278-81, 1981.
66. Mease PJ, Ochs HD, Corey L, Dragavon J, Wedgwood RJ. Echovirus encephalitis/myositis in X-linked agammaglobulinemia. N Engl J Med 312: 758, 1985.
67. Melchers F, Haasner D, Grawunder U, Kalberer C, Karasuyama H, Winkler T, Rolink AG. Roles of IgH and L chains and of surrogate H and L chains in the development of cells of the B lymphocyte lineage. Ann Rev Immunol 12: 209-25, 1994.
68. Mensink EJBM, Schuurman RKB, Schot JDL, Thompson A, Alt FW. Immunoglobulin heavy chain gene rearrangements in X-linked agammaglobulinemia. Eur J Immunol 16: 963-7, 1986.
69. Mensink EJBM, Thompson A, Schot JDL, van de Greef WMM, Sandkuyl LA, Schuurman RKB. Mapping of a gene for X-linked agammaglobulinenua and evidence for genetic heterogeneity. Hum Genet 73: 327-32, 1986.
70. Milili M, Le Deist F, de Saint-Basile G, Fischer A, Fougereau M, Schiff C. Bone marrow cells in X-linked agammaglobulinemia express pre-B-specific genes (lambda-like and V pre-B) and present immunoglobulin V-D-J gene usage strongly biased to a fetal-like repertoire. J Clin Invest 91: 1616-29, 1993.
71. Misbah SA, Spickett GP, Ryba PCJ, Hockaday JM, Kroll JS, Sherwood C, Kurtz JB, Moxon ER, Chapel HM. Chronic enteroviral meningoencephalitis in agammaglobulinemia: Case report and literature review. J Clin Immunol 12: 266-70, 1992.
72. Monafo V, Maghnie M, Terracciano L, Valtorta A, Massa M, Seven F. X-linked agammaglobulinemia and isolated growth hormone deficiency. Acta Paediatr Scand 80: 563-6, 1991.
73. Müller S, Sideras P, Smith CIE, Xanthopoulos KG. Cell specific expression of human Bruton's agammaglobulinemia tyrosine kinase (Btk) gene is regulated by Sp1- and Spi-/PU.1- family members. Oncogene 13: 1955-64, 1996.
74. Norman ME, Hansell JR, Holtzapple PG, Parks JS, Waldmann TA. Malabsorption and protein-losing enteropathy in a child with X-linked agammaglobulinemia. Clin Immunol Immunopathol 4: 157-64, 1975.
75. Ochs HD, Ament ME, Davis SD. Giardiasis with malabsorption in X-linked agammaglobulinemia. N Engl J Med 287: 341-2, 1972.
76. Ochs HD, Winkelstein J. Disorders of the B cell system. In: Stiehm ER, ed. Immunologic disorders in infants and children. 4th ed. Philadelphia: WB Saunders, pp. 296-338, 1996.
77. Ohta Y, Haire RN, Amemiya CT, Litman RT, Träger T, Riess O, Litman GW. Human Txk: Genomic organization, structure, and contiguous physical linkage with the Tec gene. Oncogene 12: 937-42, 1996.
78. Ohta Y, Haire RN, Litman RT, Fu SM, Nelson RP, Kratz J, Kornfeld SJ, de la Morena M, Good RA, Litman GW. Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: Localization of mutations associated with varied clinical presentations and course in X-chromosome-linked agammaglobulinemia. Proc Natl Acad Sci U S A 91: 9062-6, 1994.
79. Ohzeki T, Hanaki K, Motozumi H, Ohtahara H, Hayashibara H, Harada Y, Okamoto M, Shiraki K, Tsuji Y, Emura H. Immunodeficiency with increased immunoglobulin M associated with growth hormone insufficiency. Acta Paediatr 82: 620-3, 1993.
80. O'Neil KM, Pallansch MA, Winkelstein JA, Lock TM, Modlin JF. Chronic group A coxsackie virus infection in agammaglobulinemia: Demonstration of genomic variation of serotypically identical isolates persistently excreted from the same patient. J Infect Dis 157: 183-6, 1988.
81. Ott J, Mensink EJB, Thompson A, Schot JD, Schuurman RKB. Heterogeneity in the map distance between the X-linked agammaglobulinemia and a map of nine RFLP loci. Hum Genet 74: 280-3, 1986.
82. Page AR, Hansen AE, Good RA. Occurrence of leukemia and lymphoma in patients with agammaglobulinemia. Blood 21: 197-206, 1963.
83. Parolini O, Hejtmancik JF, Allen RC, Belmont JW, Lassiter GL, Henry MJ, Barker DF, Conley ME. Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22. Genomics 15: 342-9, 1993.
84. Pearl ER, Vogler LB, Okos AJ, Crist WM, Lawton AR III, Cooper MD. B lymphocyte precursors in human bone marrow: An analysis of normal individuals and patients with antibody-deficiency states. J Immunol 120: 1169-75, 1978.
85. Preud'Homme JL, Griscelli C, Seligmann M. Immunoglobulins on the surface of lymphocytes in fifty patients with primary immunodeficiency diseases. Clin Immunol Immunopathol 1: 241-56, 1973.
86. Rawlings DJ, Saffran DC, Tsukada S, Largaespada DA, Grimaldi JC, Cohen L, Mohr RN, Bazan JF, Howard M, Copeland NG, Jenkins NA, Witte ON. Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science 261: 358-61, 1993.
87. Rohrer J, Parolini O, Belmont JW, Conley ME. The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia Immunogenetics 40: 319-24, 1994.
88. Rosen FS, Cooper MD, Wedgwood RJP. The primary immunodeficiencies. N Engl J Med 311: 235-42 and 300-10, 1984.
89. Rotbart HA, Kinsella JP, Wasserman RL. Persistent enterovirus infection in culture-negative meningoencephalitis: Demonstration by enzymatic RNA amplification. J Infect Dis 161: 787-91, 1990.
90. Saraste M, Hyvönen M. Pleckstrin homology domains: A fact file. Curr Opin Struct Biol 5: 403-8, 1995.
91. Saulsbury FT, Bernstein MTW, Winkelstein JA. Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia. J Pediatr 95: 559-61, 1979.
92. Schiff RI, Buckley RH, Gilbertsen RB, Metzgar RS. Membrane receptors and in vitro responsiveness of lymphocytes in human immunodeficiency. J Immunol 112: 376-86, 1974.
93. Shaw G. The pleckstrin homology domain: An intriguing multifunctional protein module. Bioessays 18: 35-46, 1996.
94. Sideras P, Müller S, Shiels H, Jin H, Kahn WN, Nilsson L, Parkinson E, Thomas JD, Brandén LJ, Larsson I, Paul WE, Rosen FS, Alt FW, Vetrie D, Smith CIE, Xanthopoulos KG. Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci. J Immunol 153: 5607-17, 1994.
95. Sideras P, Smith CIE. Molecular and cellular aspects of X-linked agammaglobulinemia. Adv Immunol 59: 135-223, 1995.
96. Siegal FP, Pernis B, Kunkel HG. Lymphocytes in human immunodeficiency states: A study of membrane-associated immunoglobulins. Eur J Immunol 1: 482-6, 1971.
97. Siliciano JD, Morrow TA, Desiderio SV. Itk: A T-cell-specific tyrosine kinase gene inducible by interleukin 2. Proc Natl Acad Sci U S A 89: 11194-8, 1992.
98. Sitz KV, Burks AW, Williams LW, Kemp SF, Steele RW. Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. J Pediatr 116: 292-4, 1990.
99. Smith CIE, Baskin B, Humire-Greiff P, Zhou J-N, Olsson PG, Maniar HS, Kjellén P, Lambris JD, Christensson B, Hammarström L, Bentley D, Vetrie D, Islam KB, Vorechovsky I, Sideras P. Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. J Immunol 152: 557-65, 1994.
100. Smith CIE, Islam KB, Vorechovsky I, Olerup O, Wallin E, Rabbani H, Baskin B, Hammarström L. X-linked agammaglobulinemia and other immunoglobulin deficiencies. Immunol Rev 138: 159-83, 1994.
101. Spector BD, Perry GS III, Kersey JH. Genetically determined immunodeficiency diseases (GDID) and malignancy: Report from the immunodeficiency-cancer registry. Clin Immunol Immunopathol 11: 12-29, 1978.
102. Stewart DM, Notarangelo LD, Kurman CC, Staudt LM, Nelson DL. Molecular genetic analysis of X-linked hypoagammaglobulinemia and isolated growth hormone deficiency. J Immunol 155: 2770-4, 1995.
103. Stiehm ER, Fudenberg HH. Serum levels of immune globulins in health and disease. A survey. Pediatrics 37: 715-27, 1966.
104. Sugamura K, Asao H, Kondo M, Tanaka N, Ishii N, Nakamura M, Takeshita T. The common γ-chain for multiple cytokine receptors. Adv Immunol 59: 225-77, 1995.
105. Sweinberg SK, Wodell RA, Grodofsky MP, Greene JM, Conley ME. Retrospective analysis of the incidence of pulmonary disease in hypogammaglobulinemia. J Allergy Clin Immunol 88: 96-104, 1991.
106. Tamagnone L, Lahtinen I, Mustonen T, Virtaneva K, Francis F, Muscatelli F, Alitalo R, Smith CIE, Larsson C, Alitalo K. BMX, a novel cytoplasmic tyrosine leinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2. Oncogene 9: 3683-8, 1994.
107. Thomas JD, Sideras P, Smith CIE, Vorechovsky I, Chapman V, Paul WE. Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. Science 261: 355-8, 1993.
108. Timmers E, Kenter M, Thompson A, Kraakman MEM, Berman JE, Alt FW, Schuurman RKB. Diversity of immunoglobulin heavy chain gene segment rearrangement in B lymphoblastoid cell lines from X-linked agammaglobulinemia patients. Eur J Immunol 21: 2355-63, 1991.
109. Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, Belmont JW, Cooper MD, Conley ME, Witte ON. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72: 279-90, 1993.
110. van der Meer JWM, Mouton RP, Dana MR, Schuurman RKB. Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia. J Infect 12: 235-9, 1986.
111. van der Meer JWM, Weening RS, Schellekens PTA, Van Munster IP, Nagengast FM. Colorectal cancer in patients with X-linked agammaglobulinaemia. Lancet 341: 1439-40, 1993.
112. van Noesel CJM, van Lier RAW. Architecture of the human B-cell antigen receptors. Blood 82: 363-73, 1993.
113. Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M, Smith CIE, Bentley DR. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases. Nature 361: 226-33, 1993.
114. Vihinen M, Brooimans RA, Kwan S-P, Lehvaslaiho H, Litman GW, Ochs HD, Resnick I, Schwaber JH, Vorechovsky I, Smith CIE. BTKbase: X-linked agammaglobulinemia mutation registry. Immunol Today 17: 502-6, 1996.
115. Vihinen M, Cooper MD, de Saint Basile G, Fischer A, Good RA, Hendriks RW, Kinnon C, Kwan S-P, Litman GW, Notarangelo LD, Ochs HD, Rosen FS, Vetrie D, Webster ADB, Zegers BJM, Smith CIE. BTKbase: A database of XLA-causing mutations. Immunol Today 16: 460-5, 1995.
116. Vihinen M, Iwata T, Kinnon C, Kwan S-P, Ochs HD, Vorechovsky I, Smith CIE. BTKbase, mutation database for X-linked agammaglobulinemia (XLA). Nucleic Acids Res 24: 160-5, 1996.
117. Vihinen M, Nilsson L, Smith CIE. Structural basis of SH2 mutations in X-linked agammaglobulinemia. Biochem Biophys Res Comm 205: 1270-7, 1994.
118. Vihinen M, Smith CIE. Structural aspects of signal transduction in B cells. Crit Rev Immunol (in press), 1996.
119. Vihinen M, Vetrie D, Maniar HS, Ochs HD, Zhu Q, Vorechovsky I, Webster ADB, Notarangelo LD, Nilsson L, Sowadski JM, Smith CIE. Structural basis for chromosome X-linked agammaglobulinemia: A tyrosine kinase disease. Proc Natl Acad Sci U S A 91: 12803-7, 1994.
120. Vihinen M, Zvelebil MJJM, Zhu Q, Brooimans RA, Ochs HD, Zegers BJM, Nilsson L, Waterfield MD, Smith CIE. Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia Biochem 34: 1475-81, 1995.
121. Vorechovsky I, Luo L, Hertz JM, Frøland SS, Fiornini M, Quinti I, Paganelli R, Segers R, Hammarström L, Webster ADB, Smith CIE. Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. Hum Mutation (in press), 1996.
122. Vorechovsky I, Vetrie D, Holland J, Bentley DR, Thomas K, Zhou J-N, Notarangelo LD, Plebani A, Fontan G, Ochs HD, Hammarström L, Sideras P, Smith CIE. Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22. Genomics 21: 517-24, 1994.
123. Vorechovsky I, Vihinen M, de Sainte Basile G, Honsova S, Hammarström L, Müller S, Nilsson L, Fischer A, Smith CIE. DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. Hum Mol Genet 4: 51-8, 1995.
124. Vorechovsky I, Zhou JN, Vetrie D, Bentley D, Björkander J, Hammarström L, Smith CIE. Molecular diagnosis of X-linked agammaglobulinaemia. Lancet 341: 1153, 1993.
125. Webster ADB, Rotbart HA, Warner T, Rudge P, Hyman N. Diagnosis of enterovirus brain disease in hypogammaglobulinemic patients by polymerase chain reaction. Clin Infect Dis 17: 657-61, 1993.
126. Wedgwood RJ, Ochs HD, Davis SD. The recognition and classification of immunodeficiency diseases with bacteriophage X174. In: Bergsma D, ed. Immunodeficiency in man and animals. Birth defects: Original article series. Vol. XI, No. 1. Sunderland, Mass.: Sinauer Associates, pp. 331-8, 1975.
127. Wedgwood RJ, Ochs HD. Variability in the expression of X-linked agammaglobulinemia: The co-existence of classic X-LA (Bruton type) and "common variable immunodeficiency" in the same families. In: Seligmann M, Hitzig WH, eds. Primary immunodeficiencies, INSERM Symposium No. 16. The Netherlands: Elsevier/North-Holland Biomedical Press, pp. 69-78, 1980.
128. Wilfert CM, Buckley RH, Mohanakumar T, Griffith JF, Katz SL, Whisnant JK, Eggleston PA, Moore M, Treadwell E, Oxman MN, Rosen FS. Persistent and fatal central-nervous-system Echovirus infections in patients with agammaglobulinemia. N Engl J Med 296: 1485-9, 1977.
129. Wright PF, Hatch MH, Kasselberg AG, Lowry SP, Wadlington WB, Karzon DT. Vaccine-associated poliomyelitis in a child with sex-linked agammaglobulinemia. J Pediatr 91: 408-12, 1977.
130. Wyatt HV. Poliomyelitis in hypogammaglobulinemics. J Infect Dis 128: 802-6, 1973.
131. Wyatt RA, Younoszai K, Anuras S, Myers MG. Campylobacter fetus septicemia and hepatitis in a child with agammaglobulinemia. J Pediatr 91: 441-2, 1977.
132. Yap PL, McOmish F, Webster ADB, Hammarstrom L, Smith CIE, Björkander J, Ochs HD, Fischer S, Quinti I, Simmonds P. Hepatitis C virus transmission by intravenous immunoglobulin. J Hepatol 21: 455-400, 1994.
133. Zhu Q, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, Kwan S-P, Nilsson L, Smith CIE, Witte ON, Chen S-H, Ochs HD. Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med 180: 461-70, 1994.
134. Ziegler JB, Penny R. Fatal ECHO 30 virus infection and amyloidosis in X-linked hypogammaglobulinemia. Clin Immunol Immunopathol 3: 347-52, 1975.