Tuberc Respir Dis.  2005 Jan;58(1):11-17. 10.4046/trd.2005.58.1.11.

Partial Interferon-gamma Receptor Deficiency in Patients with Disseminated Tuberculosis

• Hwang JH
• Koh WJ
• Lee SH
• Kim EJ
• Kang EH
• Suh GY
• Chung MP
• Kim H
• Kwon OJ

• KMID: 2132194
• DOI: http://doi.org/10.4046/trd.2005.58.1.11

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.

Keyword

Tuberculosis; Genetic predisposition to disease; Interferon receptors; Point mutation

MeSH Terms

Clinical Coding
Genetic Predisposition to Disease
Humans
Interferon-gamma*
Mutation, Missense
Nontuberculous Mycobacteria
Point Mutation
Receptors, Interferon
Tuberculosis*
Interferon-gamma
Receptors, Interferon