immunodeficiency with hyper-IgM type 2

A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the A

A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.

Signs and symptoms

• Recurrent infection of the gastrointestinal tract
• Recurrent bacterial infections
• Recurrent respiratory infections
• Decreased circulating IgA concentration
• Decreased circulating IgG concentration
• Increased circulating IgM concentration
• Lymphadenopathy
• Recurrent upper and lower respiratory tract infections
• Complete or near-complete absence of specific antibody response to tetanus vaccine
• Impaired Ig class switch recombination

Also known as: AID deficiency; HIGM2; activation-induced cytidine deaminase deficiency; hyper-IgM syndrome type 2