COVID-19 research
Gene: IRF2BP2Although this gene has been reviewed red by two reviewers, and a search of the literature still finds only one reported case in which variants in this gene have been associated with a immunodeficiency disorder (PMID: 27016798 Keller et al 2016), this gene is listed in the 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee paper (PMID: 31953710 Tangye et al 2020) and so will be rated as green for now.Created: 8 Apr 2020, 8:29 a.m. | Last Modified: 8 Apr 2020, 8:29 a.m.
Panel Version: 0.62
Single family reported only.Created: 5 Apr 2020, 1:41 a.m. | Last Modified: 5 Apr 2020, 1:41 a.m.
Panel Version: 0.44
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency, common variable, 14, MIM# 617765
Publications
Comment on publications: Added publications suggested from external expert review to support gene-disease associationCreated: 6 Jul 2018, 12:55 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IRF2BP2 .PanelApp HGNC gene symbol check: IRF2BP2 . IUIS Disease: IRF2BP2 deficiency . IUIS Inheritance: AD .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections, possible autoimmunity and inflammatory disease. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID PhenotypeCreated: 6 Jul 2018, 12:28 p.m.
One kindred onlyCreated: 29 Jun 2018, 9:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CVID
Publications
Phenotypes for gene: IRF2BP2 were changed from Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID to Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID; Immunodeficiency, common variable, 14, MIM# 617765
Publications for gene: IRF2BP2 were set to 27016798; 32086639; 32048120
Source Expert Review Green was added to IRF2BP2. Added phenotypes Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID for gene: IRF2BP2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: IRF2BP2 was added gene: IRF2BP2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IRF2BP2 were set to 27016798; 32086639; 32048120 Phenotypes for gene: IRF2BP2 were set to Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID