label: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
label_lc: autoimmune lymphoproliferative syndrome due to ctla4 haploinsufficiency
description: "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."