Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia

BMC Pediatrics

Sang Ngoc Nguyen²  Akihiro Yachie¹  Ohara Osamu³  Anh Thi Van Nguyen⁴  Hai Thanh Le⁴  Huong Thi Minh Le⁴  Taizo Wada¹  Quang Van Vu² 

[1] Department of Pediatrics, Intistute of Medical, Pharmaceutical and Health Science, Kanazawa University, Kanazawa, Japan;Department of Pediatrics, Haiphong University of Medicine and Pharmacy, 72 A Nguyen Binh Khiem, Ngo Quyen, Haiphong, Vietnam;Kazusa DNA Research institute, Chiba, Japan;National Hospital of Pediatrics, Hanoi, Vietnam

关键词: Bruton disease;    Mutation analysis;    Hypogammaglobulinemia;    Bruton tyrosine kinase (BTK);    XLA;    X-linked agammaglobulinemia;   

Others  :  1138845
DOI  :  10.1186/1471-2431-14-129

 received in 2014-02-07, accepted in 2014-05-23,  发布年份 2014

【 摘 要 】

Background

X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Vietnam.

Methods

We investigated the BTK gene mutations and clinical features of four unrelated Vietnamese children.

Results

The mean ages at onset and at diagnosis were 2.5 and 8 years, respectively. All patients had a medical history of otitis media, pneumonia, and septicemia at the time of diagnosis. Other infections reported included sinusitis, bronchiectasis, arthritis, skin infections, meningitis, and recurrent diarrhea. We identified one previously reported mutation (c.441G >A) and three novel mutations: two frameshifts (c.1770delG and c.1742 delG), and one nonsense (c.1249A >T).

Conclusions

The delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results further support the importance of molecular genetic testing in diagnosis of XLA.

【 授权许可】

   
2014 Vu et al.; licensee BioMed Central Ltd.

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