DNA repair deficiency in systemic lupus erythematosus: cause or consequence of disease and implications for management

Lupus ◽  
1995 ◽  
Vol 4 (6) ◽  
pp. 423-424 ◽  
Author(s):  
A.L. Herrick ◽  
J.A. Rafferty ◽  
G.P. Margison
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Dna Repair ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Repair Deficiency ◽  
Dna Repair Deficiency

scholarly journals DNA repair and systemic lupus erythematosus

DNA Repair ◽  
2017 ◽  
Vol 56 ◽  
pp. 174-182 ◽  
Author(s):  
Rithy Meas ◽  
Matthew J. Burak ◽  
Joann B. Sweasy
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Dna Repair ◽  
Lupus Erythematosus ◽  
Systemic Lupus

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

2019 ◽  
Vol 57 (7) ◽  
pp. 505-508 ◽  
Author(s):  
Helen Toledano ◽  
Naama Orenstein ◽  
Efrat Sofrin ◽  
Noa Ruhrman-Shahar ◽  
Gil Amarilyo ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Mismatch Repair ◽  
Lupus Erythematosus ◽  
Neurofibromatosis Type ◽  
Diagnostic Feature ◽  
Mismatch Repair Deficiency ◽  
Systemic Lupus ◽  
Repair Deficiency ◽  
Biallelic Mutations ◽  
Constitutional Mismatch Repair Deficiency

Biallelic mutations in any of the four mismatch repair genes MSH2, MSH6, MLH1 and PMS2 result in one of the most aggressive childhood cancer predisposition syndromes, termed constitutional mismatch repair deficiency (CMMRD) syndrome. In addition to a very high tumour risk, the CMMRD phenotype is often characterised by the presence of signs reminiscent of neurofibromatosis type 1. Although paediatric systemic lupus erythematosus (pSLE) has been reported so far in three patients with CMMRD, it has not been considered a diagnostic feature of the syndrome. We report here two additional female patients with pSLE and CMMRD due to biallelic pathogenic variants in MSH6. Hence, there are a total of five out of approximately 200 (2.5%) currently reported patients with CMMRD that also have pSLE, suggesting pSLE should raise the suspicion of a diagnosis of CMMRD, especially if supported by additional indicative features

Efficiency of the DNA repair and polymorphisms of the XRCC1, XRCC3 and XRCC4 DNA repair genes in systemic lupus erythematosus

Lupus ◽  
2008 ◽  
Vol 17 (11) ◽  
pp. 988-995 ◽  
Author(s):  
CL Bassi ◽  
DJ Xavier ◽  
GM Palomino ◽  
P Nicolucci ◽  
CP Soares ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Dna Repair ◽  
Lupus Erythematosus ◽  
Dna Repair Genes ◽  
Systemic Lupus ◽  
Repair Genes

DNA REPAIR GENES POLYMORPHISMS: INFLUENCE UPON SYSTEMIC LUPUS ERYTHEMATOSUS AND ITS CLINICAL MANIFESTATIONS

2021 ◽  
pp. 47-57
Author(s):  
Suelen Cristina de Lima ◽  
Jaqueline de Azevêdo Silva ◽  
Nadja Maria Jorge Asano ◽  
Gisele Vagjel Fernandes ◽  
Lucila Maria Valente ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Dna Repair ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Dna Repair Genes ◽  
Systemic Lupus ◽  
Repair Genes

scholarly journals Novel Autoantibodies Related to Cell Death and DNA Repair Pathways in Systemic Lupus Erythematosus

2019 ◽  
Vol 17 (3) ◽  
pp. 248-259 ◽  
Author(s):  
Hui Luo ◽  
Ling Wang ◽  
Ding Bao ◽  
Li Wang ◽  
Hongjun Zhao ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Cell Death ◽  
Dna Repair ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Repair Pathways

scholarly journals Association of Polymorphisms in the DNA Repair Genes XRCC1 and XRCC3 with Systemic Lupus Erythematosus

2019 ◽  
Vol 13 (1) ◽  
pp. 15-21 ◽  
Author(s):  
Cristhiane A. Leite Da Silva ◽  
Marcial F. Galera ◽  
Regiane R. Festi ◽  
Mariano M. Espinosa ◽  
Vander Fernandes ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Dna Repair ◽  
Lupus Erythematosus ◽  
Protective Role ◽  
Control Group ◽  
Dna Repair Genes ◽  
Systemic Lupus ◽  
Genotype Frequencies ◽  
Healthy Control ◽  
Repair Genes

Background: Evidence suggests that DNA damage is implicated in the development of Systemic Lupus Erythematosus (SLE). Objective: Investigate the possible association of polymorphisms in the DNA repair genes XRCC1 and XRCC3 with SLE and its clinical and laboratory features. Methods: This is a case-control study comparing the polymorphisms in the DNA repair genes XRCC1 and XRCC3 in SLE patients and control individuals. Genotyping for DNA repair genes was performed by polymerase chain reaction-restriction fragment length polymorphism in 76 patients and 82 healthy control individuals. Results: Our data indicated that the genotype frequencies in patients with the XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms were similar to those observed in the control group (p > 0.05). However, the frequencies of the 399Gln allele (p = 0.023, OR = 0.58, 95% CI = 0.36–0.93) and 241Met allele (p = 0.0039, OR = 0.59, 95% CI = 0.36–0.98) were significantly lower in the patients than those in the control subjects. Conclusion: We demonstrated that 399Gln and 241Met alleles may play a protective role in SLE susceptibility.

LIG4 and RAD52 DNA repair genes polymorphisms and systemic lupus erythematosus

2014 ◽  
Vol 41 (4) ◽  
pp. 2249-2256 ◽  
Author(s):  
Jaqueline De Azevêdo Silva ◽  
João Alexandre Trés Pancotto ◽  
Eduardo Antônio Donadi ◽  
Sergio Crovella ◽  
Paula Sandrin-Garcia
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Dna Repair ◽  
Lupus Erythematosus ◽  
Dna Repair Genes ◽  
Systemic Lupus ◽  
Repair Genes
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