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Metadata
ID DOID:0112004
Name immunodeficiency 71
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 ARPC1B on chromosome 7q22.1.
https://pubmed.ncbi.nlm.nih.gov/30254128/
Xrefs

OMIM:617718

Synonyms

IMD71 [EXACT]

immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia [EXACT]

platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [EXACT]

PLTEID [EXACT]

Parent Relationships

is_a combined immunodeficiency

is_a autosomal recessive disease

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