immunodeficiency with hyper-IgM type 4

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.

Signs and symptoms

• Recurrent infection of the gastrointestinal tract
• Bronchiectasis
• Autoimmune hemolytic anemia
• Absence of lymph node germinal center
• Impaired Ig class switch recombination
• Recurrent bacterial infections
• Autoimmune thrombocytopenia
• Recurrent upper respiratory tract infections
• Myelodysplasia
• Immunodeficiency

Also known as: HIGM4; hyper-IgM syndrome type 4