Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

Author:

Hoenig Manfred1,Lagresle-Peyrou Chantal2,Pannicke Ulrich34,Notarangelo Luigi D.5,Porta Fulvio6,Gennery Andrew R.78,Slatter Mary78,Cowan Morton J.9,Stepensky Polina10,Al-Mousa Hamoud11,Al-Zahrani Daifulah12,Pai Sung-Yun1314,Al Herz Waleed15,Gaspar Hubert B.1617,Veys Paul1617,Oshima Koichi18,Imai Kohsuke19,Yabe Hiromasa20,Noroski Lenora M.21,Wulffraat Nico M.22,Sykora Karl-Walter23,Soler-Palacin Pere24,Muramatsu Hideki25,Al Hilali Mariam26,Moshous Despina27,Debatin Klaus-Michael1,Schuetz Catharina1,Jacobsen Eva-Maria1,Schulz Ansgar S.1,Schwarz Klaus34,Fischer Alain27,Friedrich Wilhelm1,Cavazzana Marina2

Affiliation:

1. Department of Pediatrics, University Medical Center Ulm, Ulm, Germany;

2. Biotherapy Clinical Investigation Center, Hôpital Necker Enfants Malades, Paris, France;

3. Institute for Transfusion Medicine, University of Ulm, Ulm, Germany;

4. Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg – Hessen, Ulm, Germany;

5. Division of Immunology, Boston Children’s Hospital, Boston, MA;

6. Department of Pediatrics, University Hospital, Brescia, Italy;

7. Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;

8. Department of Paediatric Immunology and Haematopoietic Stem Cell Transplant (HSCT), Great North Children´s Hospital, Newcastle upon Tyne, United Kingdom;

9. Division of Allergy, Immunology and Bone Marrow Transplant (BMT), UCSF Benioff Children´s Hospital, San Francisco, CA;

10. Pediatric Hematology-Oncology, Hadassah University Hospital, Jerusalem, Israel;

11. Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia;

12. Department of Pediatrics, Allergy, Immunology and BMT, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia;

13. Division of Hematology-Oncology, Boston Children’s Hospital, Boston, MA;

14. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA;

15. Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait;

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

17. Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom;

18. Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan;

19. Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan;

20. Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isahara, Japan;

21. Department of Allergy and Immunology, Section of Immunology, Allergy and Rheumatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX;

22. Department of Pediatric Immunology, University Medical Center Utrecht, Utrecht, The Netherlands;

23. Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;

24. Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d´Hebron, Barcelona, Spain;

25. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan;

26. Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; and

27. Paediatric Immunology, Haematology and Rheumatology, Assistance Publique – Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France

Abstract

Key Points Compared with other SCID entities, patients with RD have an earlier presentation with bacterial rather than opportunistic infections. Myeloablative agents before transplantation support reliable myeloid engraftment and long-term cure in patients with RD.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference20 articles.

1. Reticular dysgenesia;de Vaal;Lancet,1959

2. Reticular Dysgenesis;Friedrich,2014

3. Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness;Small;J Pediatr,1999

4. Haploidentical bone marrow transplants for two patients with reticular dysgenesis;De Santes;Bone Marrow Transplant,1996

5. Severe combined immunodeficiency: treatment by bone marrow transplantation in 15 infants using HLA-haploidentical donors;Friedrich;Eur J Pediatr,1985

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