Conditions / Genetic
immunodeficiency 120
info · Genetic
A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chrom
A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13.
Signs and symptoms
- Decreased naive CD4+ T cell proportion
- Microcephaly
- Hearing impairment
- Delayed speech and language development
- Short stature
- Bronchiectasis
- Decreased total B cell count
- Decreased total CD4+ T cell proportion
- Verrucae
- Reduced total natural killer cell count