Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

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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.


Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Resources
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