LIG4 syndrome

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

Pancytopenia

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).


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PMID (PMCID)
19418549
 FEMALE Child
A novel mutation in a family with DNA ligase IV deficiency syndrome.
Unal S, Cerosaletti K, Uckan-Cetinkaya D, Cetin M, Gumruk F.
Pediatr Blood Cancer. 2009;53(3):482-4.
DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.