Article
A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.
Clinical and experimental immunology - 1 Apr 2008
Conley M E, Farmer D M, Dobbs A K, Howard V, Aiba Y, Shurtleff S A, Kurosaki T
Abstract excerpt
Reduced B cell numbers and a mutation in Btk are considered sufficient to make the diagnosis of X-linked agammaglobulinaemia. In the process of conducting family studies, we identified a 58-year-old healthy man with an amino acid substitution, Y418H, in the adenosine-5'-triphosphate binding site of Btk. Immunofluorescence studies showed that this man had 0.85% CD19+ B cells (normal 4-18%) in the peripheral...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.