A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation.

Chung, Moon Jae; Jung, Ji Ye; Son, Ji Young; Ku, Cheol Ryong; Park, Byung Hoon; Byun, Min Kwang; Moon, Ji Ae; Kim, Young Sam; Kim, Se Kyu; Chang, Joon; Kim, Sung Kyu; Shin, Dong Min; Park, Moo Suk

doi:2008.65.3.207

Tuberc Respir Dis > Volume 65(3); 2008 > Article

Case Report

Tuberculosis and Respiratory Diseases 2008;65(3):207-211.
DOI: https://doi.org/10.4046/trd.2008.65.3.207 Published online September 1, 2008.

A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation.

Moon Jae Chung, 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

¹Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea. pms70@yuhs.ac
²The Institute of Chest Diseases, Yonsei University College of Medicine, Seoul, Korea.
³Department of Pathology, Chungnam National University College of Medicine, Daejeon, Korea.

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).

Key Words: Agammaglobulinemia, Bruton's tyrosine kinase, Mutation