Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CTLA4
Penetrance is suggested to be incomplete - see PMID: 25329329;25213377.Created: 16 May 2017, 8:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diarrhea/enteropathy; Hypogammaglobulinemia; Granulomatous lymphocytic interstitial lung disease; Respiratory infections; Organ infiltration (bone marrow, kidney, brain, liver); Splenomegaly; Autoimmune thrombocytopenia; Autoimmune hemolytic anemia; Lymphadenopathy; Psoriasis and other skin diseases; Autoimmune thyroiditis; Autoimmune arthritis
Comment on list classification: Gene rated green by expert reviewer. Multiple Autoimmune lymphoproliferative syndrome, type V cases reported in OMIM with different variants in this gene, which includes Lymphocytic enteropathy and Diarrhea as a clinical feature.Created: 12 Oct 2016, 11:23 a.m.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for CTLA4 were set to 25367873 - a family with Crohn's disease (CD) and severe autoimmunity; 25329329 - family and further cases reported with hypogammaglobulinemia, recurrent infections and multiple autoimmune clinical features; 25213377
Publications for CTLA4 were set to 25367873 - a family with Crohn's disease (CD) and severe autoimmunity; 25329329 - family and further cases reported with hypogammaglobulinemia, recurrent infections and multiple autoimmune clinical features.
Publications for CTLA4 were set to
Publications for CTLA4 were set to 25329329;
CTLA4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
CTLA4 was created by ellenmcdonagh