OBO ID: DOID:0112004
Term Name: immunodeficiency 71 Search Ontology:
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 ARPC1B on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/30254128/
References:
Ontology: Human Disease   (DOID:0112004)
OTHER immunodeficiency 71 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARPC1B Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia 617718
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None