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The relationship between defects in DNA repair genes and autoinflammatory diseases

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Abstract

Tissue inflammation and damage with the abnormal and overactivation of innate immune system results with the development of a hereditary disease group of autoinflammatory diseases. Multiple numbers of DNA damage develop with the continuous exposure to endogenous and exogenous genotoxic effects, and these damages are repaired through the DNA damage response governed by the genes involved in the DNA repair mechanisms, and proteins of these genes. Studies showed that DNA damage might trigger the innate immune response through nuclear DNA accumulation in the cytoplasm, and through chronic DNA damage response which signals itself and/or by micronucleus. The aim of the present review is to identify the effect of mutation that occurred in DNA repair genes on development of DNA damage response and autoinflammatory diseases.

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  1. Department of Medical Biology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey

    Demet Kivanc & Selcuk Dasdemir

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The idea of the article belongs to SD. Literature search was performed by DK. Data analysis was performed by DK and SD. The first draft of the manuscript was written by DK, critically revised the work by SD.

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Correspondence to Selcuk Dasdemir.

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Kivanc, D., Dasdemir, S. The relationship between defects in DNA repair genes and autoinflammatory diseases. Rheumatol Int 42, 1–13 (2022). https://doi.org/10.1007/s00296-021-04906-3

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