Term Name: | immunodeficiency 71 |
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Synonyms: | IMD71, immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, PLTEID |
Definition: | A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. |
Ontology: | Human Disease [DOID:0112004] ( DOID:0112004 ) |