immunodeficiency with hyper IgM type 5

A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homo

A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.

Signs and symptoms

• Increased circulating IgM concentration
• Impaired Ig class switch recombination
• Recurrent bacterial infections
• Lymphadenopathy
• Decreased circulating IgA concentration
• Decreased circulating IgG concentration
• Immunodeficiency
• Recurrent upper and lower respiratory tract infections
• Epididymitis

Also known as: HIGM5; hyper-IgM syndrome 5; hyper-IgM syndrome due to UNG deficiency; hyper-IgM syndrome due to uracil N-glycosylase