COVID-19 research
Gene: IFNAR2Comment on mode of inheritance: Added MOI suggested by external reviewCreated: 6 Jul 2018, 12:46 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IFNAR2 .PanelApp HGNC gene symbol check: IFNAR2 . IUIS Disease: IFNAR2 deficiency . IUIS Inheritance: AR .T cells: Nl number, low cytokine production, poor antigen proliferation, .B cells: N/A, .IUIS Other affected cells: Broadly expressed. IUIS Associated features: Severe viral infections (disseminated vaccine-strain measles, HHV6). IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Severe Viral InfectionCreated: 6 Jul 2018, 12:28 p.m.
1 kindred, proband and sibling shared homozygous variant but severe viral disease did not occur in the latter (possibly because of active management)Created: 29 Jun 2018, 9:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
susceptibility to severe viral disease
Publications
Source Expert Review Green was added to IFNAR2. Added phenotypes ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity for gene: IFNAR2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: IFNAR2 was added gene: IFNAR2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNAR2 were set to 32086639; 32048120; 26424569 Phenotypes for gene: IFNAR2 were set to ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity