DNA ligase IV deficiency

Term ID

DOID:0060021

Synonyms

• LIG4 Syndrome

Definition

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. (2)

References

• OMIM:606593

Ontology

Human Disease   ( DOID:0060021 )