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Tesch VK, IJspeert H, Raicht A, et al. No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. Front Immunol. 2018;9:1506doi: 10.3389/fimmu.2018.01506.
Tesch, V. K., IJspeert, H., Raicht, A., Rueda, D., Dominguez-Pinilla, N., Allende, L. M., Colas, C., Rosenbaum, T., Ilencikova, D., Baris, H. N., Nathrath, M. H. M., Suerink, M., Januszkiewicz-Lewandowska, D., Ragab, I., Azizi, A. A., Wenzel, S. S., Zschocke, J., Schwinger, W., Kloor, M., Blattmann, C., Brugieres, L., van der Burg, M., Wimmer, K., & Seidel, M. G. (2018). No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. Frontiers in immunology, 91506. https://doi.org/10.3389/fimmu.2018.01506
Tesch, Victoria K, et al. "No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency." Frontiers in immunology vol. 9 (2018): 1506. doi: https://doi.org/10.3389/fimmu.2018.01506
Tesch VK, IJspeert H, Raicht A, Rueda D, Dominguez-Pinilla N, Allende LM, Colas C, Rosenbaum T, Ilencikova D, Baris HN, Nathrath MHM, Suerink M, Januszkiewicz-Lewandowska D, Ragab I, Azizi AA, Wenzel SS, Zschocke J, Schwinger W, Kloor M, Blattmann C, Brugieres L, van der Burg M, Wimmer K, Seidel MG. No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. Front Immunol. 2018 Jul 02;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018. PMID: 30013564; PMCID: PMC6036136.
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Front Immunol. 2018 Jul 02;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018.

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Frontiers in immunology

Victoria K Tesch, Hanna IJspeert, Andrea Raicht, Daniel Rueda, Nerea Dominguez-Pinilla, Luis M Allende, Chrystelle Colas, Thorsten Rosenbaum, Denisa Ilencikova, Hagit N Baris, Michaela H M Nathrath, Manon Suerink, Danuta Januszkiewicz-Lewandowska, Iman Ragab, Amedeo A Azizi, Soeren S Wenzel, Johannes Zschocke, Wolfgang Schwinger, Matthias Kloor, Claudia Blattmann, Laurence Brugieres, Mirjam van der Burg, Katharina Wimmer, Markus G Seidel

Affiliations

  1. Research Unit Pediatric Hematology and Immunology, Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.
  2. Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
  3. Hereditary Cancer Laboratory, University Hospital Doce de Octubre, i+12 Research Institute, Madrid, Spain.
  4. Department of Pediatric Hematology and Oncology, Virgen de la Salud Hospital, Toledo, Spain.
  5. i+12 Research Institute, University Hospital Doce de Octubre, Madrid, Spain.
  6. Department of Immunology, University Hospital Doce de Octubre, i+12 Research Institute, Madrid, Spain.
  7. Genetics Department, Curie Institute, Paris, France.
  8. Department of Pediatrics, Sana Kliniken Duisburg, Duisburg, Germany.
  9. Department of Pediatrics, Comenius University Bratislava, Bratislava, Slovakia.
  10. The Genetics Institute, Rambam Health Care Campus, The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
  11. Pediatric Hematology and Oncology, Klinikum Kassel, Kassel, Germany.
  12. Pediatric Oncology Center, Department of Pediatrics, Technische Universität München, Munich, Germany.
  13. Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  14. Department of Pediatric Oncology, Hematology and Transplantation, Pozna? University of Medical Sciences, Pozna?, Poland.
  15. Pediatrics Department, Hematology-Oncology Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
  16. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  17. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  18. Department of Applied Tumor Biology, Institute of Pathology, Medical University Heidelberg, Heidelberg, Germany.
  19. Department of Hematology, Oncology, and Immunology, Olgahospital Stuttgart, Stuttgart, Germany.
  20. Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Villejuif, France.

PMID: 30013564 PMCID: PMC6036136 DOI: 10.3389/fimmu.2018.01506

Abstract

Immunoglobulin class-switch recombination (CSR) and somatic hypermutations (SHMs) are prerequisites for antibody and immunoglobulin receptor maturation and adaptive immune diversity. The mismatch repair (MMR) machinery, consisting of homologs of MutSα, MutLα, and MutSβ (MSH2/MSH6, MLH1/PMS2, and MSH2/MSH3, respectively) and other proteins, is involved in CSR, primarily acting as a backup for nonhomologous end-joining repair of activation-induced cytidine deaminase-induced DNA mismatches and, furthermore, in addition to error-prone polymerases, in the repair of SHM-induced DNA breaks. A varying degree of antibody formation defect, from IgA or selective IgG subclass deficiency to common variable immunodeficiency and hyper-IgM syndrome, has been detected in a small number of patients with constitutional mismatch repair deficiency (CMMRD) due to biallelic loss-of-function mutations in one of the MMR genes (

Keywords: DNA repair defect; IgA deficiency; IgG subclass deficiency; class-switch recombination; hyper-IgM syndrome; mismatch repair; primary immunodeficiency; somatic hypermutation

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