Common Variable Immunodeficiency
Gene: CTLA4
Autoimmune lymphoproliferative syndrome type V is an autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Some patients may show features of an immunodeficiency syndrome with recurrent infections, but immunosuppressive therapy often results in clinical improvement.
More than 10 unrelated families reported.Created: 9 Aug 2021, 12:36 a.m. | Last Modified: 9 Aug 2021, 12:36 a.m.
Panel Version: 0.105
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoimmune lymphoproliferative syndrome, type V, MIM# 616100
Publications
Gene: ctla4 has been classified as Green List (High Evidence).
Phenotypes for gene: CTLA4 were changed from to Autoimmune lymphoproliferative syndrome, type V, MIM# 616100
Publications for gene: CTLA4 were set to
Mode of inheritance for gene: CTLA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: CTLA4 was added gene: CTLA4 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CTLA4 was set to Unknown