Tuberc Respir Dis.
2003 Jun;54(6):628-634. 10.4046/trd.2003.54.6.628.
X-linked Agammaglobulinemia Associated with Bronchiectasis: A Case Report
- Affiliations
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- 1Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. wjkoh@smc.samsung.co.kr
- 2Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- KMID: 1516646
- DOI: http://doi.org/10.4046/trd.2003.54.6.628
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.
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