Conditions / Genetic
autosomal recessive hyper-IgE syndrome 3 with recurrent infections
info ยท Genetic
A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11.
Signs and symptoms
- Recurrent skin infections
- Eczematoid dermatitis
- Increased circulating IgE concentration
- Mild intellectual disability
- Abnormality of the dentition
- Recurrent infections
- High palate
- Atopic dermatitis
- Bronchiectasis
- Recurrent mucocutaneous candidiasis
Also known as: hyper IgE recurrent infection syndrome 3