X linked agammaglobulinaemia with a 'leaky' phenotype. Issue 6 (June 1996)

• Record Type: Journal Article
• Authors: Jones, A; Bradley, L; Alterman, L; Tarlow, M; Thompson, R; Kinnon, C; Morgan, G
• Is Part Of: Archives of disease in childhood. Volume 74:Issue 6(1996)
• Page Start: 548
• Page End: 549
• Publication Date: 1996-06
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.74.6.548
• Languages: English
• ISSNs: 0003-9888

Abstract

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.