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.

ABSTRACT:

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 IFNgammaR1. One such mutation, 818del4, is believed to be the most common type. Although these mutations are presumed to exert a dominant-negative effect on IFNgamma signal transduction, the underlying molecular mechanism is unresolved.

Objective

We characterised the 774del4 mutant of IFNgammaR1 using a gene-expression system to examine the effects of this mutation on

SUBMITTER: Okada S 

PROVIDER: S-EPMC2597923 | biostudies-literature | 2007 Aug

REPOSITORIES: biostudies-literature