A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation.
10.4046/trd.2008.65.3.207
- Author:
Moon Jae CHUNG
1
;
Ji Ye JUNG
;
Ji Young SON
;
Cheol Ryong KU
;
Byung Hoon PARK
;
Min Kwang BYUN
;
Ji Ae MOON
;
Young Sam KIM
;
Se Kyu KIM
;
Joon CHANG
;
Sung Kyu KIM
;
Dong Min SHIN
;
Moo Suk PARK
Author Information
1. Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea. pms70@yuhs.ac
- Publication Type:Case Report
- Keywords:
Agammaglobulinemia;
Bruton's tyrosine kinase;
Mutation
- MeSH:
Agammaglobulinemia;
Antibodies;
B-Lymphocytes;
Bronchiectasis;
Cytoplasm;
Genetic Diseases, X-Linked;
Humans;
Introns;
Male;
Pneumonia;
Protein-Tyrosine Kinases;
Respiratory Tract Infections;
Tyrosine;
Young Adult
- From:Tuberculosis and Respiratory Diseases
2008;65(3):207-211
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).
