Conditions / Immune
immunodeficiency 95
info · Immune
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.
Signs and symptoms
- Respiratory distress
- Ground-glass opacification
- Increased circulating IgG3 concentration
- Recurrent viral upper respiratory tract infections
- Decreased total lymphocyte count
- Recurrent fever
- Respiratory failure
- Recurrent viral pneumonia
- Decreased circulating IgG3 concentration
- Recurrent respiratory infections