Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060021 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models