Clinical Manifestations and Treatment in Korean Patients with X-Linked Agammaglobulinemia
Pediatric Infection & Vaccine
; : 152-159, 2017.
Article
in Korean
| WPRIM (Western Pacific)
| ID: wpr-129023
Responsible library:
WPRO
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.
Full text:
Available
Health context:
SDG3 - Health and Well-Being
/
SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases
Health problem:
Target 3.1: Reduce maternal mortality
/
Target 3.4: Reduce premature mortality due to noncommunicable diseases
/
Target 3.2: Reduce avoidable death in newborns and children under 5
/
Other Blood Disorders
/
Other Respiratory Diseases
Database:
WPRIM (Western Pacific)
Main subject:
Sinusitis
/
Bacterial Infections
/
Protein-Tyrosine Kinases
/
Bronchiectasis
/
Gamma-Globulins
/
Immunoglobulins
/
B-Lymphocytes
/
Immunoglobulins, Intravenous
/
Codon, Nonsense
/
Amino Acid Substitution
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Pediatric Infection & Vaccine
Year:
2017
Document type:
Article