Clinical Manifestations and Treatment in Korean Patients with X-Linked Agammaglobulinemia.
10.14776/piv.2017.24.3.152
- Author:
Hannah CHO
1
;
Joong Gon KIM
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, the Republic of Korea. gkim@snu.ac.kr
- Publication Type:Original Article
- Keywords:
Bruton type agammaglobulinemia;
Immunoglobulins, intravenous
- MeSH:
Agammaglobulinemia*;
Amino Acid Substitution;
B-Lymphocytes;
Bacterial Infections;
Bronchiectasis;
Codon, Nonsense;
Diagnosis;
Early Diagnosis;
gamma-Globulins;
Humans;
Immunoglobulins;
Immunoglobulins, Intravenous;
Mothers;
Neutropenia;
Protein-Tyrosine Kinases;
Seoul;
Sinusitis
- From:Pediatric Infection & Vaccine
2017;24(3):152-159
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children's Hospital. METHODS: Fourteen Korean boys with XLA showing serum agammaglobulinemia, non-detectable to less than 2% of peripheral B-cells, and mutation of the Btk gene were enrolled. We observed the clinical features, laboratory findings, status of treatment, and complications in these XLA patients. RESULTS: All XLA patients had a history of recurrent bacterial infections before diagnosis, and 20% of them had a neutropenia. Of the XLA patients 35.7% had a family history of XLA and 75% of their mothers were carriers. Btk gene analysis showed variable gene mutations in Xq22 including 9 amino acid substitutions, 3 frameshifts, 1 premature stop codon, and 1 splice defect. After intravenous immunoglobulin replacement therapy, infection episodes decreased, but complications such as bronchiectasis and chronic sinusitis remained. CONCLUSIONS: In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.
