A Case of X-Linked Agammaglobulinemia Associated with Severe Neutropenia / 소아알레르기및호흡기학회지
Pediatric Allergy and Respiratory Disease
;
: 328-333, 2002.
Article
in Korean
| WPRIM
| ID: wpr-212160
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pneumonia
/
Bacterial Infections
/
Protein-Tyrosine Kinases
/
B-Lymphocytes
/
Point Mutation
/
Agammaglobulinemia
/
Neutropenia
Language:
Korean
Journal:
Pediatric Allergy and Respiratory Disease
Year:
2002
Type:
Article
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