DNA ligase IV deficiency

DNA ligase IV deficiency, also known as LIG4 syndrome or ligase 4 syndrome, is a hereditary disorder that mainly affects the body’s ability to repair damaged DNA. This condition results from problems with the DNA double-strand break repair mechanism, which is vital for maintaining cell health. People with this condition may experience a variety of physical differences, including smaller head size (microcephaly), unusual facial features, and delayed growth and development. In addition, there can be skin anomalies and a reduction in blood cells (pancytopenia), which is linked with combined immunodeficiency (CID).

Common signs and symptoms of DNA ligase IV deficiency include microcephaly (smaller than normal head size), distinctive facial features, delays in growth and development, skin anomalies, and pancytopenia. Pancytopenia is associated with combined immunodeficiency, making infections a potential concern.

DNA ligase IV deficiency is caused by mutations in the LIG4 gene, which plays an important role in repairing DNA double-strand breaks. These genetic changes disrupt the normal repair process of damaged DNA, leading to the various symptoms associated with the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.