Search Ontology:
Human Disease

immunodeficiency 71

Term ID
DOID:0112004
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 the ARPC1B gene on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/30254128/
References
Ontology
Human Disease   ( DOID:0112004 )
Relationships
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Genes Involved
Zebrafish Models