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Article

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Journal of medical genetics - 1 Aug 2007

Okada Satoshi, Ishikawa Nobutsune, Shirao Ken'ichiro, Kawaguchi Hiroshi, Tsumura Miyuki, Ohno Yoshinori, Yasunaga Shin'ichiro, Ohtsubo Motoaki, Takihara Yoshihiro, Kobayashi Masao

Abstract excerpt

BACKGROUND: Patients with interferon-gamma receptor 1 (IFNgammaR1) deficiency show selective susceptibility to intracellular pathogens such as mycobacteria. IFNgammaR1 deficiency is an inherited immunodeficiency disorder, which can be either recessive or dominant. Dominant forms of IFNgammaR1 deficiency are known to be associated with mutations that introduce a premature stop codon in the intracellular domain of...

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Identifiers

PMID: 17513528
DOI: 10.1136/jmg.2007.049635
PMCID: PMC2597923

Genes

IFNGR1
STAT1

Provenance

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