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

BMC Pediatrics

Haiguo Yu²  Yu Jin¹  Yayuan Zhang²  Bixia Zheng¹ 

[1] Department of Gastroenterology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China;Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China

关键词: Germline mutation;    Bruton tyrosine kinase;    X-linked agammaglobulinemia;   

Others  :  1121184
DOI  :  10.1186/1471-2431-14-265

 received in 2014-05-20, accepted in 2014-10-01,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Zheng et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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