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).

Immunodeficiency

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.


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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.
16088910
 MALE
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM.
Am J Med Genet A. 2005;137A(3):283-7.
The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.