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Metadata
ID DOID:0111978
Name immunodeficiency 65
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 IRF9 on chromosome 14q12.
https://pubmed.ncbi.nlm.nih.gov/30143481/, https://pubmed.ncbi.nlm.nih.gov/30826365/
Xrefs

OMIM:618648

Synonyms

IMD65 [EXACT]

immunodeficiency 65, susceptibility to viral infections [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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