Conditions / Genetic
autosomal dominant hyper-IgE syndrome 1 with recurrent infections
info · Genetic
A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
Signs and symptoms
- Wide nose
- Recurrent pneumonia
- Increased circulating IgE concentration
- Recurrent cutaneous abscess formation
- Cutaneous abscess
- Eczematoid dermatitis
- Pulmonary cyst
- Persistence of primary teeth
- Increased total eosinophil count
- Skin rash
Also known as: Job syndrome; Job's syndrome; STAT3 Hyper IgE syndrome; hyper IgE recurrent infection syndrome 1; hyperimmunoglobulin E syndrome