A novel mutation (Cys(145→Stop)) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male

Molecular Medicine

Volumn 2, Issue 5, 1996, Pages 619-623

  Kornfeld, Stephen J ^a   Haire, Robert N ^a   Strong, Scott J ^a   Tang, Huayang ^b   Sung, Sun Sang J ^b   Fu, Shu Man ^b   Litman, Gary W ^a  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE; AGAMMAGLOBULINAEMIA TYROSINE KINASE;

ADULT; ANTIBODY PRODUCTION; ARTICLE; B LYMPHOCYTE DIFFERENTIATION; BACTERIAL INFECTION; CASE REPORT; CELL LYSATE; CHEMOLUMINESCENCE; DNA SEQUENCE; GENE DELETION; GENE MUTATION; HUMAN; MALE; MONONUCLEAR CELL; PRIORITY JOURNAL; X LINKED AGAMMAGLOBULINEMIA; AGAMMAGLOBULINEMIA; FEMALE; GENETIC LINKAGE; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE; X CHROMOSOME;

AGAMMAGLOBULINEMIA; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN-TYROSINE KINASES; X CHROMOSOME;

EID: 0029658036     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401645     Document Type: Article

References (13)

1. Bruton OC. (1952) Agammaglobulinemia. Pediatrics 9: 722-728.
2. Rosen FS, Cooper MD, Wedgwood RJP. (1984) The primary immunodeficiencies. N. Engl. J. Med. 311: 235-242.
3. Lederman HM, Winkelstein JA. (1985) X-linked agammaglobulinemia: An analysis of 96 patients. Medicine 64: 145-156.
4. Tsukada S, Saffran DC, Rawlings DJ, et al. (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72: 279-290.
5. Vetrie D, Vorechovsky I, Sideras P, et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361: 226-233.
6. Vihinen M, Iwata T, Kinnon C, et al. (1996) BTKbase, mutation database for X-linked agammaglobulinemia (XLA). Nucleic Acids Res. 24: 160-165.
7. Bykowsky MJ, Haire RN, Ohta Y, et al. (1996) Discordant phenotype in siblings with X-linked agammaglobulinemia. Am. J. Hum. Genet. 10: 477-483.
8. Ohta Y, Haire RN, Litman RT, et al. (1994) Genomic organization and structure of the 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: 9062-9066.
9. Sideras P, Smith CIE. (1995) Molecular and cellular aspects of X-linked agammaglobulinemia. Adv. Immunol. 59: 135-223.
10. Saffran DC, Parolini O, Fitch-Hilgenberg ME, et al. (1994) Brief report: A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. N. Engl. J. Med. 330: 1488-1491.
11. Leickly FE, Buckley R. (1986) Variability in B cell maturation and differentiation in X-linked agammaglobulinemia. Clin. Exp. Immunol. 65: 90-99.
12. Wedgwood RJ, Ochs HD. (1980) Variability in the expression of X-linked agammaglobulinemia: The co-existence of classic XLA (Bruton type) and "common variable immunodeficiency" in the same families. In: Seligmann M, Hitzig WH (eds). Primary Immunodeficiencies. INSERM Symposium No. 16. Elsevier/North-Holland Biomedical Press, The Netherlands, pp. 69-78.
13. Kornfeld SJ, Kratz J, Haire RN, et al. (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. J. Allergy Clin. Immunol. 95: 915-917.