Partial Interferon-gamma Receptor Deficiency in Patients with Disseminated Tuberculosis.
- Author:
Jung Hye HWANG
1
;
Won Jung KOH
;
Shin Hye LEE
;
Eun Joo KIM
;
Eun Hae KANG
;
Gee Young SUH
;
Man Pyo CHUNG
;
Hojoong KIM
;
O Jung KWON
Author Information
- Publication Type:Original Article
- Keywords: Tuberculosis; Genetic predisposition to disease; Interferon receptors; Point mutation
- MeSH: Clinical Coding; Genetic Predisposition to Disease; Humans; Interferon-gamma*; Mutation, Missense; Nontuberculous Mycobacteria; Point Mutation; Receptors, Interferon; Tuberculosis*
- From:Tuberculosis and Respiratory Diseases 2005;58(1):11-17
- CountryRepublic of Korea
- Language:Korean
- Abstract: BACKGROUND: 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.
