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| COVID-19 research v0.36 | CD40LG |
Ellen McDonagh gene: CD40LG was added gene: CD40LG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CD40LG were set to 7678782; 7586644; 11875495; 20301576; 7882172; 17146684; 8094231; 7679206; 7679801 Phenotypes for gene: CD40LG were set to Hyper-IGM immunodeficiency, X-linked; HIGM; Hyper-IGM syndrome; Hyper-IgM syndrome type 1; Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections; XHIM; Immunodeficiency, X-linked, with hyper-IgM; Immunodeficiencies affecting cellular and humoral immunity; Hyper-IgM syndrome due to CD40 ligand deficiency; Hyper-IgM syndrome due to CD40L deficiency; IHIS; HIGM1; IMD3; CSR defects and Hyper IgM (HIGM) syndromes; Immunodeficiency 3; CD40 ligand deficiency |
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| COVID-19 research v0.36 | CD40 |
Ellen McDonagh gene: CD40 was added gene: CD40 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD40 were set to 17502893; 20301287; 12584544; 11675497 Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3; Hyper-IgM syndrome due to CD40 deficiency; non-X-linked hyper IgM syndrome; Immunodeficiencies affecting cellular and humoral immunity; HIGM3; CD40 deficiency; Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections; CSR defects and Hyper IgM (HIGM) syndromes |
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