General Information of Disease (ID: DISIWQV8)

Disease Name Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Synonyms
tripeptidyl-peptidase II deficiency; TPPII deficiency; Evans syndrome associated with primary immunodeficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; triangle disease
Disease Hierarchy
DIS093I0: Immunodeficiency
DISIWQV8: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TPP2 TTQ7R2V Supportive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TPP2 OT91OVAU Supportive Autosomal recessive [1]
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References

1 Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Blood. 2015 Jan 29;125(5):753-61. doi: 10.1182/blood-2014-08-593202. Epub 2014 Nov 20.