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