Orphanet: Autoimmune hemolytic anemia autoimmune thrombocytopenia primary immunodeficiency syndrome

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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.

ORPHA:444463

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: -

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Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

ORPHA:444463

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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