|OBO ID: DOID:0112004|
|Term Name:||immunodeficiency 71||Search 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 ARPC1B on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/30254128/|
|Ontology:||Human Disease (DOID:0112004)|
|is a type of:||
OTHER immunodeficiency 71 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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