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DNA Ligase I Deficiency

MedGen UID:
864456
•Concept ID:
C4016019
•
Disease or Syndrome

Definition

A very rare genetic syndrome characterized by reduced replicative DNA ligase I. It results in immunodeficiency and cellular hypersensitivity to DNA-damaging agents. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDNA Ligase I Deficiency

Recent clinical studies

Diagnosis

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Dabrowska-Leonik N, Pastorczak AK, Bąbol-Pokora K, Bernat-Sitarz K, Piątosa B, Heropolitańska-Pliszka E, Kacprzak MM, Kalwak K, Gul K, van der Burg M, Ussowicz M, Pac M
Front Immunol 2022;13:1033338. Epub 2022 Oct 19 doi: 10.3389/fimmu.2022.1033338. PMID: 36341401Free PMC Article
Defects in DNA ligase I trigger PCNA ubiquitylation at Lys 107.
Das-Bradoo S, Nguyen HD, Wood JL, Ricke RM, Haworth JC, Bielinsky AK
Nat Cell Biol 2010 Jan;12(1):74-9; sup pp 1-20. Epub 2009 Dec 13 doi: 10.1038/ncb2007. PMID: 20010813Free PMC Article
DNA ligase I deficiency in Bloom's syndrome.
Willis AE, Lindahl T
Nature 1987 Jan 22-28;325(6102):355-7. doi: 10.1038/325355a0. PMID: 3808031

Clinical prediction guides

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Dabrowska-Leonik N, Pastorczak AK, Bąbol-Pokora K, Bernat-Sitarz K, Piątosa B, Heropolitańska-Pliszka E, Kacprzak MM, Kalwak K, Gul K, van der Burg M, Ussowicz M, Pac M
Front Immunol 2022;13:1033338. Epub 2022 Oct 19 doi: 10.3389/fimmu.2022.1033338. PMID: 36341401Free PMC Article
Altered DNA ligase activity in human disease.
Tomkinson AE, Naila T, Khattri Bhandari S
Mutagenesis 2020 Feb 13;35(1):51-60. doi: 10.1093/mutage/gez026. PMID: 31630206Free PMC Article
Phosphorylation of SRSF1 is modulated by replicational stress.
Leva V, Giuliano S, Bardoni A, Camerini S, Crescenzi M, Lisa A, Biamonti G, Montecucco A
Nucleic Acids Res 2012 Feb;40(3):1106-17. Epub 2011 Oct 7 doi: 10.1093/nar/gkr837. PMID: 21984412Free PMC Article
Normal V(D)J coding junction formation in DNA ligase I deficiency syndromes.
Petrini JH, Donovan JW, Dimare C, Weaver DT
J Immunol 1994 Jan 1;152(1):176-83. PMID: 8254190
Rescue of the adeno-associated virus 2 genome correlates with alterations in DNA-modifying enzymes in human cells.
Nahreini P, Srivastava A
Intervirology 1992;33(2):109-15. doi: 10.1159/000150239. PMID: 1314783

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