Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Other Names: ALPS due to CTLA4 haploinsuffiency; ALPS type 5; ALPS type V; Autoimmune lymphoproliferative syndrome type 5; Autoimmune lymphoproliferative syndrome type V; CHAI; CTLA-4 haploinsufficiency with autoimmune infiltration disease; Autoimmune lymphoproliferative syndrome, type V; CTLA4 Haploinsufficiency with autoimmune infiltration
A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.
NIH genetic and rare disease info[edit source]
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare disease.
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