Abstract
Typical X linked agammaglobulinaemia (XLA) is characterised by absence of immunoglobulin production and lack of mature B cells. The gene responsible for XLA has recently been identified, and codes for a B cell tyrosine kinase, BTK. A family affected by a B cell immunodeficiency, which is less severe than classical XLA, is described but they had a pedigree suggestive of X linked inheritance. Demonstration of a mutation in the BTK gene confirms that this is a mild form of XLA.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Alterman L. A., de Alwis M., Genet S., Lovering R., Middleton-Price H., Morgan G., Jones A., Malcolm S., Levinsky R. J., Kinnon C. Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells. J Immunol Methods. 1993 Nov 5;166(1):111–116. doi: 10.1016/0022-1759(93)90334-4. [DOI] [PubMed] [Google Scholar]
- BRUTON O. C. Agammaglobulinemia. Pediatrics. 1952 Jun;9(6):722–728. [PubMed] [Google Scholar]
- Bradley L. A., Sweatman A. K., Lovering R. C., Jones A. M., Morgan G., Levinsky R. J., Kinnon C. Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Hum Mol Genet. 1994 Jan;3(1):79–83. doi: 10.1093/hmg/3.1.79. [DOI] [PubMed] [Google Scholar]
- Conley M. E., Puck J. M. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr. 1988 May;112(5):688–694. doi: 10.1016/s0022-3476(88)80683-8. [DOI] [PubMed] [Google Scholar]
- Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A. 1989 Apr;86(8):2766–2770. doi: 10.1073/pnas.86.8.2766. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Vetrie D., Vorechovský I., Sideras P., Holland J., Davies A., Flinter F., Hammarström L., Kinnon C., Levinsky R., Bobrow M. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 1993 Jan 21;361(6409):226–233. doi: 10.1038/361226a0. [DOI] [PubMed] [Google Scholar]