Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

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Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Synonyms: ALPS due to CTLA4 haploinsuffiency | CHAI | CTLA-4 haploinsufficiency with autoimmune infiltration disease

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency?

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