hyper IgE recurrent infection syndrome 2

A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.

Signs and symptoms

• Decreased total CD4+ T cell proportion
• Recurrent bacterial infections
• Decreased circulating IgM concentration
• Atopic dermatitis
• Recurrent viral infections
• Eczematoid dermatitis
• Recurrent respiratory infections
• Increased circulating IgE concentration
• Increased total eosinophil count
• Recurrent otitis media

Also known as: autosomal recessive hyper-IgE syndrome 2 with recurrent infections