Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
ORPHA:2314· ICD-10 D82.4
Definition
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal