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Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Disease definition

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is 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.


  • Synonym(s):
    • ALPS due to CTLA4 haploinsuffiency
    • CHAI
    • CTLA-4 haploinsufficiency with autoimmune infiltration disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: D47.9
  • OMIM: 616100
  • UMLS: -
  • MeSH: -
  • GARD: 12316
  • MedDRA: -

Detailed information

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