immunodeficiency 65

Term ID

DOID:0111978

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. (2)

References

• MIM:618648

Ontology

Human Disease   ( DOID:0111978 )