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Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency
  1. Helen Toledano1,2,
  2. Naama Orenstein2,3,
  3. Efrat Sofrin3,
  4. Noa Ruhrman-Shahar4,
  5. Gil Amarilyo2,5,
  6. Lina Basel-Salmon2,4,
  7. Alan R Shuldiner6,
  8. Pola Smirin-Yosef7,
  9. Melyssa Aronson8,9,
  10. Hibs Al-tarrah8,
  11. Lili Bazak4,
  12. Claudia Gonzaga-Jauregui6,
  13. Uri Tabori8,10,
  14. Katharina Wimmer11,
  15. Yael Goldberg4
  1. 1Department of Pediatric Hematology Oncology, Schneider Children’s Medical Center of Israel, Petah Tikva, Israel
  2. 2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  3. 3Pediatric Genetic Clinic, Schneider Children’s Medical Center of Israel, Petah Tikva, Israel
  4. 4Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel
  5. 5Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel
  6. 6Regeneron Genetics Center, Tarrytown, New York, USA
  7. 7Department of Molecular Biology, Genomic Bioinformatics Laboratory, Ariel University, Ariel, Israel
  8. 8Zane Cohen Centre, Mount Sinai Hospital, Toronto, Ontario, Canada
  9. 9Department of Haematology-Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada
  10. 10The Arthur and Sonia Labbatt Brain Tumour Research Centre, The Hospital for Sick Children, Institute of Medical Sciences, The University of Toronto, Toronto, Ontario, Canada
  11. 11Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
  1. Correspondence to Dr Yael Goldberg, Recanati Genetics Institute, Rabin Medical Center, Petah Tikva 4941492, Israel; yaelgo43{at}gmail.com

Footnotes

  • HT and NO contributed equally.

  • Contributors HT, NO, ES, GA, MA, H-AT and YG collected patients’ data and summarised clinical and genetic findings. NRS, LB-S, ARS, PS-Y, LB and CG-J participated in genetic studies, genetic analyses, bioinformatics and data interpretation. HT, GA, UT and YG followed and treated the patients. HT, UT, KW and YG drafted the manuscript. All coauthors critically reviewed the manuscript and approved the final submitted version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests ARS and CG-J are full-time employees of the Regeneron Genetics Center from Regeneron Pharmaceuticals Inc. and receive stock options as part of compensation.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • HT and NO contributed equally.

  • Contributors HT, NO, ES, GA, MA, H-AT and YG collected patients’ data and summarised clinical and genetic findings. NRS, LB-S, ARS, PS-Y, LB and CG-J participated in genetic studies, genetic analyses, bioinformatics and data interpretation. HT, GA, UT and YG followed and treated the patients. HT, UT, KW and YG drafted the manuscript. All coauthors critically reviewed the manuscript and approved the final submitted version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests ARS and CG-J are full-time employees of the Regeneron Genetics Center from Regeneron Pharmaceuticals Inc. and receive stock options as part of compensation.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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