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A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

Abstract：

: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 circulation and his monocytes were positive for Btk. He had borderline low serum immunoglobulins but normal titres to tetanus toxoid and multiple pneumococcal serotypes. To determine the functional consequences of the amino acid substitution, a Btk- chicken B cell line, DT40, was transfected with expression vectors producing wild-type Btk or Y418H Btk. The transfected cells were stimulated with anti-IgM and calcium flux and inositol triphosphate (IP3) production were measured. Cells bearing the mutant protein demonstrated consistently a 15-20% decrease in both calcium flux and IP3 production. These findings indicate that even a modest decrease in Btk function can impair B cell proliferation or survival. However, a mutation in Btk and reduced numbers of B cells are not always associated with clinical disease.

journal_name

Clin Exp Immunol

journal_title

Clinical and experimental immunology

authors

Conley ME,Farmer DM,Dobbs AK,Howard V,Aiba Y,Shurtleff SA,Kurosaki T

doi

10.1111/j.1365-2249.2008.03593.x

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

39-44

issue

1

eissn

0009-9104

issn

1365-2249

pii

CEI3593

journal_volume

152

pub_type

杂志文章

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