title: Partial interferon-gamma receptor deficiency and non-tuberculous mycobacterial lung disease.
abstract: Interferon-gamma (IFN-gamma) plays a key role in the host defense response against mycobacterial disease, and a complete or partial deficiency in IFN-gamma receptor 1 (IFN-gammaR1) or IFN-gamma receptor 2 (IFN-gammaR2) has been reported to contribute to susceptibility to disseminated infection with non-tuberculous mycobacteria (NTM). However, IFN-gammaR1 and IFN-gammaR2 deficiencies have not yet been studied in adult patients with isolated NTM lung disease. The purpose of the present study was to evaluate whether partial IFN-gammaR1 and IFN-gammaR2 deficiency are associated with human susceptibility to NTM lung disease. We studied 40 patients with NTM lung disease (Mycobacterium avium complex infection, 20 patients; Mycobacterium abscessus infection, 20 patients) for partial IFN-gammaR1 and IFN-gammaR2 deficiency. Genomic DNA was amplified by polymerase chain reaction and sequenced for revealing mutations of the IFN-gammaR1 and IFN-gammaR2 gene. None of the patients had previously reported homozygous recessive missense mutation causing an amino-acid substitution in the extracellular domain of the receptor (I87T) and hotspot for small deletions (818delT, 818del4) of the IFN-gammaR1 or homozygous missense mutation (R114C) of the IFN-gammaR2. In conclusion, in adult patients with isolated NTM lung disease, there is no evidence for previously known genetic defects of partial deficiencies of IFN-gammaR1 and IFN-gammaR2 to correlate with disease.
authors: Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul 135-710, Republic of Korea.
authors: Jung Hye
authors: JH
authors: Hwang
authors: Won-Jung
authors: WJ
authors: Koh
authors: Eun Joo
authors: EJ
authors: Kim
authors: Eun Hae
authors: EH
authors: Kang
authors: Gee Young
authors: GY
authors: Suh
authors: Man Pyo
authors: MP
authors: Chung
authors: Hojoong
authors: H
authors: Kim
authors: O Jung
authors: OJ
authors: Kwon