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