A novel Bruton's tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia.

ABSTRACT:

Background

X-linked agammaglobulinemia (XLA) is a rare inherited disease characterized by recurrent bacterial infections, a paucity or absence of peripheral lymphoid tissue, an absence of circulating B cells, and marked depression of serum IgG, IgA, and IgM. Germline mutation of the BTK gene has been identified as a cause of XLA. These mutations cause defects in early B cell development.

Case presentation

In this study, we report a variant form of XLA with partial B cell function that results from a missense mutation (c.1117C > G) in exon 13 of the BTK gene. A genetic analysis of the family revealed an affected male sibling with a c.1117C > G mutation. He was observed with low level of serum immunoglobulin and CD19+ B cell and received the IVIG replacement therapy regularly

SUBMITTER: Zheng B 

PROVIDER: S-EPMC4286934 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature