Defects of intrinsic and innate immunity
Gene: IFIH1
Biallelic loss of function variants cause a predisposition to severe viral infections. IUIS IEI committee classify the condition as a defect in intrinsic and innate immunity.
Sources: Expert listCreated: 21 Nov 2024, 9:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 95 MIM#619773
Publications
Rare, likely loss-of-functions IFIH1 variants identified in eight patients with Very Early Onset Inflammatory Bowel Disease (VEOIBD) with VEOIBD from a combined cohort of 42 children. One homozygous truncating variant in a neonate from a consanguineous family, seven carriers of LoF variants (three of whom also have a second hypomorphic missense variant). Luciferase reporter assays employed to assess MDA5 activity (encoded by IFIH1). In three cases, the functional studies demonstrated that the second missense variant either did not affect protein function or was in cis with the LoF variant.Created: 6 Sep 2021, 5:55 a.m. | Last Modified: 6 Sep 2021, 5:55 a.m.
Panel Version: 0.77
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Inflammatory Bowel Disease
Publications
Three unrelated individuals with mono allelic LoF variants reported from a cohort of children admitted to ICU with severe respiratory infections (PMID:28716935). Another individual with bi-allelic variants and recurrent and prolonged infections also reported (PMID: 29018476)
Sources: Expert listCreated: 5 Apr 2020, 8 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Severe viral respiratory infections; Rhinovirus and other RNA viruses
Publications
Gene: ifih1 has been classified as Green List (High Evidence).
Gene: ifih1 has been classified as Green List (High Evidence).
gene: IFIH1 was added gene: IFIH1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IFIH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFIH1 were set to 28606988; 29018476; 28716935; 34185153 Phenotypes for gene: IFIH1 were set to Immunodeficiency 95 MIM#619773 Review for gene: IFIH1 was set to GREEN