immunodeficiency 96

A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13

A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13.

Signs and symptoms

• Decreased circulating IgM concentration
• Recurrent lower respiratory tract infections
• Motor delay
• Abnormal T cell proliferation
• Recurrent infections
• Increased gamma-delta T cell proportion
• Conjunctival telangiectasia
• Recurrent otitis media
• Increased mean corpuscular volume
• Growth delay