immunodeficiency 62

A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_ma

A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2.

Signs and symptoms

• Recurrent lower respiratory tract infections
• Bronchiectasis
• Recurrent herpes
• Complete or near-complete absence of specific antibody response to tetanus vaccine
• Decreased memory B cell proportion
• Decreased total B cell count
• Decreased circulating isohemagglutinin concentration
• Increased transitional B cell proportion
• Recurrent upper respiratory tract infections
• Severe recurrent varicella

Also known as: IMD62