Autoimmune Lymphoproliferative Syndrome
Gene: CTLA4
PMID: 39060684; 3x individuals. 1x missense, 1x splice 1x PTC
PMID:38302222; 9x in Center for Chronic Immunodeficiency in Freiburg, Germany database
Sources: LiteratureCreated: 15 Jan 2025, 1:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: ctla4 has been classified as Green List (High Evidence).
Gene: ctla4 has been classified as Green List (High Evidence).
gene: CTLA4 was added gene: CTLA4 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTLA4 were set to 39060684; 38302222 Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 Review for gene: CTLA4 was set to GREEN gene: CTLA4 was marked as current diagnostic