Conditions / Genetic
immunodeficiency 26
info · Genetic
A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_ba
A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.
Signs and symptoms
- Decreased total T cell count
- Severe combined immunodeficiency
- Decreased total B cell count
- Recurrent lower respiratory tract infections
- Microcephaly
- Recurrent aphthous stomatitis
- Long philtrum
- Seizure
- Brain atrophy
- Prominent forehead
Also known as: IMD26; SCID due to DNA-PKcs deficiency; immunodeficiency 26, with or without neurologic abnormalities; severe combined immunodeficiency due to DNA-PKcs deficiency