A Case of X-Linked Agammaglobulinemia Associated with Severe Neutropenia.
- Author:
Kyoung Yeon LEE
1
;
Dong Kyu LEE
;
Jun Eun PARK
;
Jae Ho LEE
;
Myung Ik LEE
Author Information
1. Department of Pediatics, College of Medicine, Dankook University, Cheonan, Korea. milee@asthmacamp.pe.kr
- Publication Type:Case Report
- Keywords:
X-Linked agammaglobulinemia;
Neutropenia
- MeSH:
Agammaglobulinemia*;
B-Lymphocytes;
Bacterial Infections;
Neutropenia*;
Pneumonia;
Point Mutation;
Protein-Tyrosine Kinases
- From:Pediatric Allergy and Respiratory Disease
2002;12(4):328-333
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
X-linked agammaglobulinemia(XLA) is characterized by markedly reduced number of B lymphocytes, panhypogammaglobulinemia, recurrent bacterial infections in the first few years of life because of genetic defect for Bruton's tyrosine kinase at Xq22 region. Although XLA is a typical humoral immunodeficiency disease, severe neutropenia is sometimes presented in acute infection phase. We report a 23-month-boy with XLA who presented prolonged pneumonia, severe neutropenia over one month and profound panhypogammaglobulinemia. As his pneumonia improved, neutropenia subsided, but panhypogammaglobulinemia sustained. He was confirmed to have a point mutation in Btk-gene by direct-sequencing of Btk-gene.
