Conditions / Genetic

immunodeficiency 119

info ยท Genetic

A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individua

A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV.

Signs and symptoms

  • Decreased circulating immunoglobulin concentration
  • Decreased class-switched memory B cell proportion
  • Combined immunodeficiency
  • Genital warts
  • Pneumonia
  • Recurrent sinusitis
  • Angular cheilitis
  • Recurrent otitis media
  • Recurrent bronchitis
  • Decreased total lymphocyte count