Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
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.
Also known as ALPS due to CTLA4 haploinsufficiency, ALPS type 5, ALPS type V, autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, autoimmune lymphoproliferative syndrome type 5, autoimmune lymphoproliferative syndrome type V, CHAI, CTLA-4 haploinsufficiency with autoimmune infiltration disease, CTLA4 haploinsufficiency, immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation — per MONDO