Term Name: immunodeficiency 95
Synonyms:
Definition: A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24.
Ontology: Human Disease [DOID:0061065]   ( DOID:0061065 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease