Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient

BMC Pediatrics

Hung-Chun Chen⁴  Daw-Yang Hwang³  Wei-Chiao Chang¹  I-Fang Wang²  Jer-Ming Chang⁴  Lee-Moay Lim³ 

[1]Master Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei, Taiwan

[2]Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan

[3]Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, 100 Tze-You First Road, Kaohsiung City 807, Taiwan

[4]Faculty of Renal Care, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan

关键词: Immunoglobulin;    Haematuria;    Proteinuria;    Bruton’s tyrosine kinase;    X-linked agammaglobulinaemia;   

Others  :  1144494
DOI  :  10.1186/1471-2431-13-150

 received in 2013-03-18, accepted in 2013-09-24,  发布年份 2013

【 摘 要 】

Background

X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton’s tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature B cells, and an increased susceptibility to recurrent bacterial infections. However, the diagnosis of XLA can be a challenge in certain patients who have near-normal levels of serum immunoglobulin. Furthermore, reports on XLA with renal involvement are scant.

Case presentation

We report an atypical XLA patient who presented with selective immunoglobulin M (IgM) immunodeficiency and nephropathy. He was diagnosed with selective IgM immunodeficiency, based on his normal serum immunoglobulin G (IgG) and immunoglobulin A (IgA) levels but undetectable serum IgM level. Intravenous immunoglobulin was initiated due to increased infections and persistent proteinuria but no improvement in proteinuria was found. A lupus-like nephritis was detected in his kidney biopsy and the proteinuria subsided after receiving a mycophenolate mofetil regimen. Although he had a history of recurrent bacterial infections since childhood, XLA was not diagnosed until B-lymphocyte surface antigen studies and a genetic analysis were conducted.

Conclusions

We suggest that B-lymphocyte surface antigen studies and a BTK mutation analysis should be performed in familial patients with selective IgM deficiency to rule out atypical XLA.

【 授权许可】

   
2013 Lim et al.; licensee BioMed Central Ltd.

【 图 表 】

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