has material basis in germline mutation in CTLA4 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsufficiency https://www.malacards.org/card/immune_dysregulation_with_autoimmunity_immunodeficiency_and_lymphoproliferation chai MEDGEN:863651 ALPS due to CTLA4 haploinsufficiency ALPS type V autoimmune lymphoproliferative syndrome type 5 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. OMIM:616100 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation autoimmune lymphoproliferative syndrome, type V autoimmune lymphoproliferative syndrome type V UMLS:C4015214 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency GARD:0012316 ALPS type 5 MONDO:0014493 CHAI ALPS5 NCIT:C126341 CTLA-4 haploinsufficiency with autoimmune infiltration disease Orphanet:436159 autoimmune lymphoproliferative syndrome