Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

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, CHAI, CTLA-4 haploinsufficiency with autoimmune infiltration disease, CTLA4 haploinsufficiency, autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, autoimmune lymphoproliferative syndrome type 5

85 clinical trials for this condition and its sub-types, 1 tagged with Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency itself.