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Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Disease definition

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.

ORPHA:436159

Classification level: Disorder
  • 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: D84.8
  • OMIM: 616100
  • UMLS: -
  • MeSH: -
  • GARD: 12316
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.