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COVID-19 research v0.36 | CTPS1 |
Ellen McDonagh gene: CTPS1 was added gene: CTPS1 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTPS1 were set to 9536098; 24870241; 27638562; 26424649; 17576681 Phenotypes for gene: CTPS1 were set to Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Severe combined immunodeficiency due to CTPS1 deficiency; Immunodeficiency 24, 615897; Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH ); Diseases of Immune Dysregulation |