immunodeficiency 71

Summary

DOID:0112004 - immunodeficiency 71

Disease Ontology 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.

Synonyms: IMD71, PLTEID, immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, platelet abnormalities with eosinophilia and immune-mediated inflammatory disease,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: arpc1b

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), combined immunodeficiency (is_a)