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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
  1. Kenji Nakagawa1,
  2. Eva Gonzalez-Roca2,
  3. Alejandro Souto3,
  4. Toshinao Kawai4,
  5. Hiroaki Umebayashi5,
  6. Josep María Campistol6,
  7. Jeronima Cañellas7,
  8. Syuji Takei8,
  9. Norimoto Kobayashi9,
  10. Jose Luis Callejas-Rubio10,
  11. Norberto Ortego-Centeno10,
  12. Estíbaliz Ruiz-Ortiz2,
  13. Fina Rius2,
  14. Jordi Anton11,
  15. Estibaliz Iglesias11,
  16. Santiago Jimenez-Treviño12,
  17. Carmen Vargas13,
  18. Julian Fernandez-Martin14,
  19. Inmaculada Calvo15,
  20. José Hernández-Rodríguez16,
  21. María Mendez17,
  22. María Teresa Dordal18,
  23. Maria Basagaña19,
  24. Segundo Bujan20,
  25. Masato Yashiro21,
  26. Tetsuo Kubota22,
  27. Ryuji Koike22,
  28. Naoko Akuta23,
  29. Kumiko Shimoyama24,
  30. Naomi Iwata25,
  31. Megumu K Saito26,
  32. Osamu Ohara27,
  33. Naotomo Kambe28,
  34. Takahiro Yasumi1,
  35. Kazushi Izawa1,
  36. Tomoki Kawai1,
  37. Toshio Heike1,
  38. Jordi Yagüe2,
  39. Ryuta Nishikomori1,
  40. Juan I Aróstegui2
  1. 1Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
  2. 2Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain
  3. 3Department of Rheumatology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain
  4. 4Department of Human Genetics, National Center for Child Health and Development, Tokyo, Japan
  5. 5Department of General Pediatrics, Miyagi Children's Hospital, Sendai, Japan
  6. 6Department of Nephrology, Hospital Clínic-IDIBAPS, Barcelona, Spain
  7. 7Department of Rheumatology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain
  8. 8Faculty of Medicine, School of Health Sciences, Kagoshima University, Kagoshima, Japan
  9. 9Department of Pediatrics, School of Medicine, Shinshu University, Matsumoto, Japan
  10. 10Department of Internal Medicine, Hospital Universitario San Cecilio, Granada, Spain
  11. 11Department of Pediatric Rheumatology, Hospital Sant Joan de Deu, Esplugues, Spain
  12. 12Department of Pediatrics, Hospital Central de Asturias, Oviedo, Spain
  13. 13Department of Rheumatology, Hospital Virgen de la Macarena, Sevilla, Spain
  14. 14Department of Internal Medicine, Hospital Meixoeiro, Vigo, Spain
  15. 15Department of Pediatric Rheumatology, Hospital Universitario La Fe, Valencia, Spain
  16. 16Department of Autoimmune Diseases, Hospital Clínic-IDIBAPS, Barcelona, Spain
  17. 17Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain
  18. 18Department of Allergy, Hospital Municipal de Badalona, Badalona, Spain
  19. 19Allergy Unit, Hospital Universitari Germans Trias i Pujol, Badalona, Spain
  20. 20Department of Internal Medicine, Hospital Vall d'Hebron, Barcelona, Spain
  21. 21Department of Pediatrics, Okayama University Graduate School of Medicine, Okayama, Japan
  22. 22Department of Medicine and Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
  23. 23Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
  24. 24Third Internal Medicine Department, Hamamatsu University School of Medicine, Hamamatsu, Japan
  25. 25Department of Infection and Immunology, Aichi Children's Health and Medical Centre, Obu, Japan
  26. 26Department of Clinical Application, Center for iPS cell research and application, Kyoto University, Kyoto, Japan
  27. 27Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan
  28. 28Department of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan
  1. Correspondence to Dr Juan I Aróstegui, Immunology Department (esc 4-pl 0), Hospital Clínic, Villarroel, 170, Barcelona 08036, Spain; jiaroste{at}clinic.ub.es and Dr Ryuta Nishikomori,Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin Sakyo, Kyoto 606-8507, Japan; rnishiko@kuhp.kyoto-u.ac.jp

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