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immunodeficiency 71
Summary
- Synonym
-
- IMD71
- PLTEID
- immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
- platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
- 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.
- Super Class
- autosomal recessive disease combined immunodeficiency
External Links
- Disease Ontology
- DOID:0112004
- Mondo Disease Ontology
- OMIM
