Conditions / Genetic
DNA ligase IV deficiency
info · Genetic
A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients
A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
Signs and symptoms
- Epicanthus
- Narrow forehead
- Astigmatism
- Upslanted palpebral fissure
- Microcephaly
- Micropenis
- Wide nasal bridge
- Asthma
- Global developmental delay
- Low anterior hairline
Also known as: LIG4 Syndrome