| 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 the ARPC1B gene on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/30254128/ |
| Xrefs | |
| 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 |