Journal of Shandong University (Health Sciences) ›› 2023, Vol. 61 ›› Issue (8): 74-78.doi: 10.6040/j.issn.1671-7554.0.2022.0841

• 临床医学 • Previous Articles    

New BTK gene deletion mutation: a case report and literature review

WEI Junjie1,2, YUE Qiangwei3, SUN Lifeng1   

  1. 1. Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Shandong Provincial Clinical Research Center for Childrens Health and Disease Office, Jinan 250021, Shandong, China;
    2. Department of Pediatrics, Zibo Zhoucun Peoples Hospital, Zibo 255300, Shandong, China;
    3. Outpatient Department of Stomatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China
  • Published:2023-08-30

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Abstract: Objective To investigate the clinical manifestations, laboratory examinations and gene characteristics of a child with X-linked agammaglobulinemia(XLA)caused by a new BTK gene deletion. Methods The clinical manifestations, laboratory examinations and genetic characteristics of a child with XLA admitted to Shandong Provincial Hospital Affiliated to Shandong First Medical University in August 2016 were analyzed, and relevant literature was reviewed in Wanfang, CNKI and PubMed databases. Results The child, male, 7 years and 7 months old, had a history of repeated bacterial infection since the age of 3. Peripheral blood immune function showed CD19+ 0.06%, IgG <1.42 g/L, IgA <0.23 g/L, IgM 0.44 g/L, with significantly reduced immune function. Chest CT showed bronchiectasis and bronchopneumonia. Gene test report suggested deletion of exon 2-5 of BTK gene, and the mother of the child was suspect of heterozygous deletion. There are no reports in the Human Gene Mutation Database(HGMD)of X-linked gammaglobulinemia due to a deletion mutation in exons 2-5. In 5 years of follow-up, the patient received 7.5-10 g of human immunoglobulin every 1-2 months, and no repeated bacterial infection occurred. Chest CT showed mild bronchiectasis. The childs mother was pregnant again and genetic testing by amniocentesis revealed no fetal BTK gene abnormality, and the childs brother was born with normal immune function. Conclusion Children with recurrent bacterial infections and bronchiectasis should be routinely screened for immune function, and those with abnormalities should be genetically tested for a definitive diagnosis. Children with confirmed XLA should be treated regularly with intravenous gamma globulin replacement therapy. Genetic testing of amniotic fluid for BTK is required if the mother becomes pregnant again.

Key words: X-linked agammaglobulinemia, BTK gene, Deletion mutation, Prenatal diagnosis

CLC Number: 

  • R593.31
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