DNA ligase deficiency IV

Defects in LIG44 are the cause of LIG44 syndrome. This disease is characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities.

Alternative names

LIG4

LIG4 syndrome

Classification

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

Inheritance

Autosomal recessive

OMIM

#606593 LIG4 syndrome

*601837 Ligase IV, DNA, ATP-dependent; LIG4

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Nijmegen-breakage syndrome

Incidence

Incidence is not known.