immunodeficiency 71 (DOID:0112004)
Alliance: disease page
Synonyms: IMD71; immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia; platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID
Alt IDs: OMIM:617718
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.