immunodeficiency 128

A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21.

Signs and symptoms

• Decreased total T cell count
• Decreased anti-CD3/28-induced T-cell proliferation
• Impaired phytohemagglutinin-induced T lymphocyte transformation
• Decreased total CD4+ T cell proportion
• Decreased total B cell count
• Reduced total natural killer cell count
• Decreased total CD8+ T cell proportion
• Abnormal memory T cell proportion
• Abnormal naive T cell proportion
• Abnormal gamma-delta T cell proportion