OBO ID: DOID:0060021
Term Name: DNA ligase IV deficiency Search Ontology:
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)
OTHER DNA ligase IV deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LIG4 LIG4 syndrome 606593
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None