Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Author:

Miot Charline1,Imai Kohsuke2,Imai Chihaya3,Mancini Anthony J.45,Kucuk Zeynep Yesim6,Kawai Tokomki7,Nishikomori Ryuta7,Ito Etsuro8,Pellier Isabelle9,Dupuis Girod Sophie10,Rosain Jeremie1,Sasaki Shinya8,Chandrakasan Shanmuganathan611,Pachlopnik Schmid Jana1213,Okano Tsubasa2,Colin Estelle14,Olaya-Vargas Alberto15,Yamazaki-Nakashimada Marco15,Qasim Waseem16,Espinosa Padilla Sara15,Jones Andrea17,Krol Alfons18,Cole Nyree19,Jolles Stephen20,Bleesing Jack6,Vraetz Thomas21,Gennery Andrew R.22,Abinun Mario2223,Güngör Tayfun1213,Costa-Carvalho Beatriz24,Condino-Neto Antonio25,Veys Paul26,Holland Steven M.2728,Uzel Gulbu2728,Moshous Despina2930,Neven Benedicte2930,Blanche Stéphane2930,Ehl Stephan21,Döffinger Rainer3132,Patel Smita Y.32,Puel Anne293334,Bustamante Jacinta1293334,Gelfand Erwin W.17,Casanova Jean-Laurent2931333435,Orange Jordan S.36,Picard Capucine129303334

Affiliation:

1. Study Center for Immunodeficiencies, Assistance Publique–Hopitaux de Paris, Necker Hospital for Sick Children, Paris, France;

2. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan;

3. Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan;

4. Division of Pediatric Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL;

5. Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL;

6. Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH;

7. Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan;

8. Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan;

9. Pediatric Onco-Hemato-Immunology Unit, University Hospital, Angers, France;

10. Hospices Civils de Lyon, Genetic Unit, School of Medicine, University Lyon 1, Bron, France;

11. Division of Bone Marrow Transplant, Department of Pediatrics, Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta, Emory University, Atlanta, GA;

12. Division of Immunology and

13. Division of Stem Cell Transplantation, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland;

14. Department of Biochemistry and Genetics, University Hospital, Angers, France;

15. Clinical Immunology Department and Program of Hematopoietic Stem Cell Transplantation, National Institute of Pediatrics, Mexico City, Mexico;

16. University College London Great Ormond Street Institute of Child Health, London, United Kingdom;

17. Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO;

18. Department of Pediatric Dermatology, Oregon Health & Science University, Portland, OR;

19. Paediatric Haematology, Starship Blood and Cancer Centre, Starship Hospital, Auckland, New Zealand;

20. Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom;

21. Center for Chronic Immunodeficiency, University of Freiburg, Freiburg, Germany;

22. Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;

23. Paediatric Immunology Department, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom;

24. Department of Pediatrics and

25. Department of Immunology, Institute of Biomedical Sciences, Federal University of São Paulo, São Paulo, Brazil;

26. Blood and Marrow Transplant Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom;

27. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

28. Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD;

29. Imagine Institute, Paris Descartes University, Paris, France;

30. Pediatric Hematology-Immunology and Rheumatology Unit, Assistance Publique–Hopitaux de Paris, Necker Hospital for Sick Children, Paris, France;

31. National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, United Kingdom;

32. Oxford University Hospitals NHS Foundation Trust, National Institute for Health Research Oxford Biomedical Research Centre, Oxford, United Kingdom;

33. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France;

34. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY;

35. Howard Hughes Medical Institute, New York, NY; and

36. Center for Human Immunobiology, Section of Immunology, Allergy and Rheumatology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX

Abstract

Key Points Global survival rate was 74% at a median follow-up after HSCT of 57 months. Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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