COVID-19 researchGene: FAAP24
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): FAAP24 .PanelApp HGNC gene symbol check: FAAP24 . IUIS Disease: FAAP24 deficiency . IUIS Inheritance: AR .T cells: Normal numbers , .B cells: Normal , .IUIS Other affected cells: N/A. IUIS Associated features: EBV infection-driven lymphoproliferative disease. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
Created: 6 Jul 2018, 12:09 p.m.
Comment on publications: Added publications suggested from external expert review
Created: 6 Jul 2018, 12:07 p.m.
2 siblings in 1 kindred, unusual strain of EBV
Created: 29 Jun 2018, 8:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
EBV lymphoproliferative disease
Source Expert Review Green was added to FAAP24. Added phenotypes EBV infection-driven lymphoproliferative disease; Diseases of Immune Dysregulation for gene: FAAP24 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: FAAP24 was added gene: FAAP24 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAP24 were set to 32086639; 27473539; 32048120 Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease; Diseases of Immune Dysregulation