Search Ontology:
Human Disease
immunodeficiency 71
- Term ID
- DOID:0112004
- Synonyms
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- 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 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models