Clinical Manifestations and Treatment in Korean Patients with X-Linked Agammaglobulinemia
Pediatric Infection & Vaccine
;
: 152-159, 2017.
Artículo
en Coreano
| WPRIM
| ID: wpr-129038
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Sinusitis
/
Infecciones Bacterianas
/
Proteínas Tirosina Quinasas
/
Bronquiectasia
/
Gammaglobulinas
/
Inmunoglobulinas
/
Linfocitos B
/
Inmunoglobulinas Intravenosas
/
Codón sin Sentido
/
Sustitución de Aminoácidos
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Pediatric Infection & Vaccine
Año:
2017
Tipo del documento:
Artículo
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