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.
MONDO:0017979
autoimmune lymphoproliferative syndrome
is_a
ALPS due to CTLA4 haploinsufficiency
exact
ALPS type 5
exact
ALPS type V
exact
ALPS5
related
CHAI
exact
CTLA-4 haploinsufficiency with autoimmune infiltration disease
exact
CTLA4 haploinsufficiency
exact
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
exact
autoimmune lymphoproliferative syndrome type 5
exact
autoimmune lymphoproliferative syndrome type V
exact
autoimmune lymphoproliferative syndrome, type V
related
chai
exact
immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation
exact