Severe viral respiratory infections thought to be associated with dominant negative loss of function mutations in the IFIH1 gene.
Diseases of the respiratory system
Influenza and pneumonia
Autosomal dominant
2q24.2
Severe viral respiratory infections thought to be associated with dominant negative loss of function mutations in the IFIH1 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 606951.1 | United Arab Emirates | Male | Periodic fever; Abnormal inflammatory r... Periodic fever; Abnormal inflammatory response  | NM_022168.3:c.1764del | Heterozygous | Autosomal, Dominant | Fathalla et al. 2021 |