Partial Interferon-gamma Receptor Deficiency in Patients with Disseminated Tuberculosis / 결핵및호흡기질환
Tuberculosis and Respiratory Diseases
;
: 11-17, 2005.
Article
in Korean
| WPRIM
| ID: wpr-145391
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Tuberculosis
/
Interferon-gamma
/
Receptors, Interferon
/
Point Mutation
/
Genetic Predisposition to Disease
/
Mutation, Missense
/
Clinical Coding
/
Nontuberculous Mycobacteria
Limits:
Humans
Language:
Korean
Journal:
Tuberculosis and Respiratory Diseases
Year:
2005
Type:
Article
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