Immunodeficiency 78 with Autoimmunity and Developmental Delay (IMD78)

Alias:

Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome

Tpp2 Deficiency

Imd78

Tppii-Related Immunodeficiency, Autoimmunity, and Neurodevelopmental Delay with Impaired Glycolysis and Lysosomal Expansion Disease

Evans Syndrome Associated with Primary Immunodeficiency

Tripeptidyl-Peptidase Ii Deficiency

Tppii Deficiency

Triangle Disease

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Gene & Mutation

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References Literature

Immunodeficiency 78 with Autoimmunity and Developmental Delay, also known as autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome, is related to immune deficiency disease and evans' syndrome. An important gene associated with Immunodeficiency 78 with Autoimmunity and Developmental Delay is TPP2 (Tripeptidyl Peptidase 2). Affiliated tissues include bone marrow and t cells, and related phenotypes are autoimmune thrombocytopenia and hepatitis

Related ID：

MALACARDS：IMM237

OMIM：619220

MESH：D001327