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Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

Disease definition

A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.


Classification level: Disorder
  • Synonym(s):
    • Evans syndrome associated with primary immunodeficiency
    • TPPII deficiency
    • TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
    • TRIANGLE disease
    • Tripeptidyl-peptidase II deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: D89.8
  • OMIM: 619220
  • UMLS: C5543159
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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