immunodeficiency 35

A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozyg

A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.

Signs and symptoms

• Increased circulating IgE concentration
• Recurrent mycobacterial infections
• Recurrent viral infections
• Recurrent respiratory infections
• Recurrent fungal infections
• Immunodeficiency

Also known as: IMD35; TYK2 deficiency; autosomal recessiv HIES with atypical mycobacteriosis; autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis; susceptibility to infection due to TYK2 deficiency