immunodeficiency 53

A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce spe

A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.

Signs and symptoms

• Impaired phytohemagglutinin-induced T lymphocyte transformation
• Chronic cough
• Recurrent pneumonia
• Increased total neutrophil count
• Recurrent otitis media
• Recurrent urinary tract infections
• Failure to thrive
• Asthma
• Skin rash
• Recurrent upper respiratory tract infections

Also known as: IMD53