X-linked Agammaglobulinemia Associated with Bronchiectasis: A Case Report.
10.4046/trd.2003.54.6.628
- Author:
Chang Min YU
1
;
Won Jung KOH
;
Kyung Chan KIM
;
Byoung Hoon LEE
;
Jung Hye HWANG
;
Eun Hae KANG
;
Gee Young SUH
;
Man Pyo CHUNG
;
Hojoong KIM
;
O Jung KWON
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. wjkoh@smc.samsung.co.kr
- Publication Type:Case Report
- Keywords:
Agammaglobulinemia;
Bronchiectasis;
Protein-Tyrosine Kinase;
BTK;
Mutation;
Korea
- MeSH:
Agammaglobulinemia*;
B-Lymphocytes;
Bronchi;
Bronchiectasis*;
Cytoplasm;
Dilatation;
Humans;
Immunoglobulins;
Korea;
Male;
Plasma Cells;
Protein-Tyrosine Kinases;
Young Adult
- From:Tuberculosis and Respiratory Diseases
2003;54(6):628-634
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Bronchiectasis is defined as an abnormal, irreversible dilatation of the bronchi, which may result from a number of possible causes, and the recognition of these causes may lead to a specific management strategy. Immunodeficiency is known as one of the conditions associated with bronchiectasis. X-linked agammaglobulinemia is a rare inheritable immunodeficiency disorder, caused by a differentiation block, leading almost to the complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's tyrosine kinase. The early detection and treatment with immunoglobulin replacement are most important for the management of recurrent infections and for reducing severe complications. We report a 20-year-old male patient, with X-linked agammaglobulinemia associated with bilateral bronchiectasis, carrying a missense mutation(R520P) in the BTK gene.
