Conditions / Immune

immunodeficiency 13

info ยท Immune

A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2.

Signs and symptoms

  • Decreased total T cell count
  • Decreased total B cell count
  • Decreased total CD4+ T cell proportion
  • Decreased total lymphocyte count
  • Recurrent pneumonia
  • Recurrent sinusitis
  • Inverted CD4:CD8 ratio
  • Recurrent upper respiratory tract infections
  • Bronchiolitis obliterans organizing pneumonia
  • Immunodeficiency

Also known as: ICL; IMD13; idiopathic CD4 lymphopenia