Recent advances in the study of immunodeficiency and DNA damage response

• Published in: International Journal of Hematology Vol. 106; no. 3; pp. 357 - 365
• Main Author: Morio, Tomohiro
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Science and Business Media LLC 01.09.2017; Springer Japan; Springer Nature B.V
• Subjects: Activation-induced cytidine deaminase; Antigens; Ataxia; Ataxia telangiectasia; Class switching; Cytidine deaminase; Damage detection; Deoxyribonucleic acid; DNA; DNA Breaks, Double-Stranded; DNA Damage; DNA Repair; DNA Repair - genetics; DNA-dependent protein kinase; Double-strand break repair; Hematology; Hematopoietic Stem Cell Transplantation; Hematopoietic Stem Cell Transplantation - adverse effects; Homology; Humans; Hyper-IgM Immunodeficiency Syndrome; Hyper-IgM Immunodeficiency Syndrome - genetics; Immunoglobulin Class Switching; Immunoglobulin Class Switching - genetics; Immunoglobulin M; Job's syndrome; Medicine; Medicine & Public Health; Mismatch repair; MRE11 protein; Non-homologous end joining; Oncology; Progress in Hematology; Protein kinase C; Radiosensitivity; RAG1 protein; Repair; Severe Combined Immunodeficiency; Severe Combined Immunodeficiency - genetics; Severe Combined Immunodeficiency - therapy; T cell receptors; Toxicity; Transplantation; V(D)J Recombination; V(D)J Recombination - genetics; Class switch recombination; DNA damage response; Immunodeficiency; V(D)J recombination

DNA breaks can be induced by exogenous stimuli or by endogenous stress, but are also generated during recombination of V, D, and J genes (V(D)J recombination), immunoglobulin class switch recombination (CSR). Among various DNA breaks generated, DNA double strand break (DSB) is the most deleterious o...