Conditions / Genetic
hyper IgE recurrent infection syndrome 4
info · Genetic
A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11.
Signs and symptoms
- Scaphocephaly
- Increased total eosinophil count
- Craniosynostosis
- Scoliosis
- Increased circulating IgE concentration
- Keratitis
- Bronchiectasis
- Arthropathy
- Neurodevelopmental delay
- Joint contracture of the hand