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