Tuberc Respir Dis > Volume 58(1); 2005 > Article
Tuberculosis and Respiratory Diseases 2005;58(1):11-17.
DOI:    Published online January 1, 2005.
Partial Interferon-gamma Receptor Deficiency in Patients with Disseminated Tuberculosis.
Jung Hye Hwang, Won Jung Koh, Shin Hye Lee, Eun Joo Kim, Eun Hae Kang, Gee Young Suh, Man Pyo Chung, Hojoong Kim, O Jung Kwon
Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Interferon-gamma (IFN-gamma) is essential in the immune response to mycobacterial infections, and a complete or partial deficiency in the IFN-gamma receptor 1 (IFNgammaR1) or the IFN-gamma receptor 2 (IFNgammaR2) have been reported to confer susceptibility to a disseminated infection with nontuberculous mycobacteria. However, similar mutations in the IFN-gamma receptor have not been specifically examined in the patients with clinical tuberculosis. METHODS: This study searched for mutations in the IFN-gamma receptor gene that resulted in a partial IFN-gamma receptor deficiency in six patients with disseminated tuberculosis. The previously identified IFNgammaR1 and IFNgammaR2 coding regions were sequenced after amplification. RESULTS: There was no partial IFNgammaR1 deficiency including a homozygous recessive missense mutation causing an amino-acid substitution in the extracellular domain of the receptor (I87T) and a hotspot for small deletions (818delT, 818del4, 818insA) found in any of the patients. In addition, a partial IFNgammaR2 deficiency of the homozygous missense mutation (R114C) was not found in any of the patients. CONCLUSION: Genetic defects causing a partial IFN-gamma receptor deficiency were not identified in our patients with disseminated tuberculosis.
Key Words: Tuberculosis, Genetic predisposition to disease, Interferon receptors, Point mutation

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