Defects of intrinsic and innate immunity

Gene: IFNGR1

Green List (high evidence)

Multiple families with dominant and recessive disease reported, reviewed in PMID 15589309. Recessive deficiency, is thought to result in complete loss of cellular response to IFNG and absence of surface IFNGR1 expression. Dominant deficiency is typically due to cytoplasmic domain truncations resulting in accumulation of nonfunctional IFNGR1 proteins that may impede the function of molecules encoded by the wildtype allele, thereby leading to diminished but not absent responsiveness to IFNG.

Created: 15 Mar 2022, 7:55 a.m. | Last Modified: 15 Mar 2022, 7:55 a.m.

Panel Version: 0.85

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978

Publications

• 7815885
• 8960475
• 9389728
• 10811850
• 10192386
• 12244188
• 15589309