Conditions / Immune

immunodeficiency 65

info ยท Immune

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 homo

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.

Signs and symptoms

  • Gingivitis
  • Stomatitis
  • Bronchiectasis
  • Recurrent gastroenteritis
  • Recurrent viral infections

Also known as: IMD65; immunodeficiency 65, susceptibility to viral infections