Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

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Name:
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Description:
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.
ORPHAcode:
444463
Synonyms:
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
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14