CTLA4 Deficiency

Preferred Label : CTLA4 Deficiency;

NCIt synonyms : CHAI;

NCIt related terms : CTLA4 haploinsufficiency;

NCIt definition : A genetic condition caused by mutation(s) in the CTLA4 gene, encoding cytotoxic T-lymphocyte protein 4. Cytotoxic T-lymphocyte protein 4 is an inhibitory receptor acting as a negative regulator of T-cells, and two functional copies of the gene are required for normal immune function. Clinically, it may be characterized by gastrointestinal symptoms, lymphadenopathy, hepatomegaly, and splenomegaly, and autoimmune disorders. Mutations(s) in CTLA4 are also associated with autoimmune lymphoproliferative syndrome, type V.;

Details

Origin ID

C126341;

UMLS CUI

C4015214;

Currated CISMeF NLP mapping
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [ORDO Disease]
- Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder) [SNOMED CT concept]
- CTLA4 deficiency [MedDRA Preferred Term]
- Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder) [SNOMED CT concept]
- CTLA4 deficiency [MedDRA Preferred Term]
- Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation [OMIM Phenotype]
related_to_genetic_biomarker
- CTLA4 Gene [NCIt concept]

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