immunodeficiency with hyper IgM type 3

A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune respon

A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.

Signs and symptoms

• Decreased circulating IgE concentration
• Increased circulating IgM concentration
• Absence of lymph node germinal center
• Impaired Ig class switch recombination
• Recurrent bacterial infections
• Impaired memory B cell generation
• Decreased circulating IgA concentration
• Decreased total neutrophil count
• Immunodeficiency
• Decreased circulating IgG concentration

Also known as: CD40 deficiency; HIGM3; hyper-IgM syndrome due to CD40 deficiency; type 3 hyper-IgM immunodeficiency