Term Name: immunodeficiency 71
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 )

Relationships
is a type of: autosomal recessive disease combined immunodeficiency