Prepair 1000+

Gene: IFNGR1

Green List (high evidence)

Multiple families with recessive disease reported, reviewed in PMID 15589309.
Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Recessive deficiency is thought to result in complete loss of cellular response to IFNG and absence of surface IFNGR1 expression. Animal models present.

Note: AD condition associated with this gene - Immunodeficiency 27B, mycobacteriosis, MIM#615978.
Dominant deficiency is typically due to cytoplasmic domain truncations resulting in accumulation of non-functional IFNGR1 proteins that may impede the function of molecules encoded by the wildtype allele, thereby leading to diminished but not absent responsiveness to IFNG. Deletions including nucleotide 818 reported. (PMID: 10192386)

Created: 7 Nov 2024, 12:22 a.m. | Last Modified: 7 Nov 2024, 12:23 a.m.

Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 27A, mycobacteriosis, MIM#209950

Publications

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