DNA ligase I deficiency

Defects in LIG1 seem to cause immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. DNA ligase I is required for normal development but is not essential for replication.

Alternative names

LIG1

LIG1 deficiency

Classification

  • DNA breakage associated syndromes and DNA epigenetic modification syndromes
    • DNA ligase deficiency

Inheritance

Autosomal recessive

OMIM

*126391 Ligase I, DNA, ATP-dependent; LIG1

Cross references

Phenotypically related immunodeficiencies

IDR factfile for LIG4 syndrome

Incidence

Incidence is not known.