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

作者：Zheng Bixia; Zhang Yayuan; Jin Yu; Yu Haiguo^*

来源：BMC Pediatrics, 2014, 14(1): 265.

DOI：10.1186/1471-2431-14-265

• X-linked agammaglobulinemia
• Bruton tyrosine kinase
• Germline mutation

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 in follow up. Four female carriers were found.
Conclusion: BTK mutation analysis is necessary in the diagnosis of XLA and may be used for subsequent genetic counseling, carrier detection and prenatal diagnosis.

• 出版日期2014-10-15
• 单位南京医科大学