Defects of intrinsic and innate immunity
Gene: DBR1
IUIS IEI committee classification as a defect in innate and intrinsic immunity in the subcategory of herpes simplex encephalitis. At least 4 families reported.
Sources: Expert listCreated: 19 Nov 2024, 10:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334
Publications
Variants in this GENE are reported as part of current diagnostic practice
Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Sources: Expert listCreated: 5 Apr 2020, 8:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem
Publications
Gene: dbr1 has been classified as Green List (High Evidence).
Gene: dbr1 has been classified as Green List (High Evidence).
gene: DBR1 was added gene: DBR1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 39023559; 29474921 Phenotypes for gene: DBR1 were set to encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334 Review for gene: DBR1 was set to GREEN gene: DBR1 was marked as current diagnostic