References
- Royer-Pokora B, Kunkel L M, Monaco A P, et al. Cloning of the gene for an inherited human disorder –- chronic granulomatous disease –- on the basis of its chromosomal location. Nature 1986; 322: 32–8
- Vetrie D, Vorechovsky I, Sideras 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
- Derry J MJ, Ochs H D, Francke U. Isolation of a novel gene mutated in Wiscott-Aldrich syndrome. Cell 1994; 78: 635–44
- Roos D. The genetic basis of chronic granulomatous disease. Immunol Rev 1994; 138: 121–58
- Bruton O C. Agammaglobulinemia. Pediatrics 1952; 9: 722–9
- Sideras P, Smith C IE. Molecular and cellular aspects of X-linked agammaglobulinemia. Adv Immunol 1995, (in press)
- Tsukada S, Saffran D C, Rawlings D J, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993; 72: 279–90
- Smith C IE, Hammarström L. Cellular basis of immunodeficiency. Ann Clin Res 1987; 19: 220–9
- Thomas J D, Sideras P, Smith C IE, Vorechovsky I, Chapman V, Paul W E. A missense mutation in the X-linked agammaglobulinemia gene colocalizes with the mouse X-linked immunodeficiency gene. Science 1993; 261: 355–8
- Rawlings D J, Saffran D C, Tsukada S, et al. Mutation of the unique region of Bruton's tyrosine kinase in immunodeficient xid mice. Science 1993; 261: 358–61
- Bradley L AD, Sweatman A K, Lovering R C, et al. Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Hum Mol Genet 1994; 3: 79–83
- De Weers M, Mensink R GJ, Kraakman M EM, Schuurman R KB, 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 altered in immunodeficient xid mice. Hum Mol Genet 1994; 3: 161–6
- Saffran D C, Parolini O, Fitch-Hilgenberg M E, et al. Brief report: 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
- Zhu Q, Zhang M, Rawlings D J, et al. Deletion within the SH3 domain of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med 1994; 180: 461–70
- Vihinen M, Vetrie D, Maniar H S, et al. Structural basis for chromosome X-linked agammaglobulinemia. A tyrosine kinase disease. Proc Natl Acad Sci USA 1994; 91: 12803–7
- Allen R C, Armitage R J, Conley M E, et al. CD40 ligand gene detects responsible for X-linked hyper-IgM syndrome. Science 1993; 250: 990–3
- 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
- Disanto J P, Bonnefoy J, Gauchat J F, Fischer A, de Saint Basile G. CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM. Nature 1993; 361: 541–3
- Fuleihan R, Ramesh N, Loh R, et al. Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. Proc Natl Acad Sci USA 1993; 90: 2170–3
- Korthäuer U, Graf D, Mages H W, et al. Defective expression of the T-cell ligand causes X-linked immunodeficiency with hyper-IgM. Nature 1993; 361: 539–41
- Noguchi M, Yi H, Rosenblatt H M, et al. Interleukin-2 receptor γ chain mutations results in X-linked severe combined immunodeficiency in humans. Cell 1993; 73: 147–57
- Armitage R J, Fanslow W C, Strockbine L, et al. Molecular and biological characterization of a murine ligand for CD40. Nature 1992; 357: 80–2
- Graf D, Korthäuer U, Mages H W, Senger G, Kroczek R A. Cloning of TRAP, a ligand for CD40 on human T-cells. Eur J Immunol 1992; 22: 3191–4
- Takeshita T, Asao H, Ohtanl K, et al. Cloning of the γ chain of the human IL-2 receptor. Science 1992; 257: 379–82
- Noguchi M, Nakamura Y, Russel S M, et al. Interleukin-2 receptor γ chain: a functional component of the interleukin-7 receptor. Science 1993; 262: 1877–80
- Olerup O, Smith C IE, Hammarström L. Different amino acids at position 57 of the HLA-DQβ chain associated with susceptibility and resistance to IgA deficiency. Nature 1990; 347: 289–90
- Volanakis J E, Zhu Z B, Schaffer, et al. Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. J Clin Invest 1992; 89: 1914–22