| 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 ) |