Term Name: | immunodeficiency 65 |
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Synonyms: | IMD65, immunodeficiency 65, susceptibility to viral infections |
Definition: | A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. |
Ontology: | Human Disease [DOID:0111978] ( DOID:0111978 ) |