X-linked Agammaglobulinemia Associated with Bronchiectasis: A Case Report.

Yu, Chang Min; Koh, Won Jung; Kim, Kyung Chan; Lee, Byoung Hoon; Hwang, Jung Hye; Kang, Eun Hae; Suh, Gee Young; Chung, Man Pyo; Kim, Hojoong; Kwon, O Jung; Ki, Chang Seok; Kim, Jong Won

doi:2003.54.6.628

Tuberc Respir Dis > Volume 54(6); 2003 > Article

Case Report

Tuberculosis and Respiratory Diseases 2003;54(6):628-634.
DOI: https://doi.org/10.4046/trd.2003.54.6.628 Published online June 1, 2003.

X-linked Agammaglobulinemia Associated with Bronchiectasis: A Case Report.

Chang Min Yu, 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

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.

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.

Key Words: Agammaglobulinemia, Bronchiectasis, Protein-Tyrosine Kinase, BTK, Mutation, Korea