autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Rare Disease

MONDO:0014493

Also Known As

ALPS due to CTLA4 haploinsufficiencyALPS type 5ALPS type VCHAICTLA-4 haploinsufficiency with autoimmune infiltration diseaseCTLA4 haploinsufficiencyautoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiencyautoimmune lymphoproliferative syndrome type 5autoimmune lymphoproliferative syndrome type Vchaiimmune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationALPS5CTLA4 haploinsufficiency with autoimmune infiltrationautoimmune lymphoproliferative syndrome, type 5autoimmune lymphoproliferative syndrome, type V

Definition

A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.