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Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the Ebmt Inborn Errors Working Party Publisher Pubmed



Buso H1, 2 ; Adam E3 ; Arkwright PD4 ; Bhattad S5 ; Hamidieh AA6 ; Behfar M6 ; Belot A8 ; Benezech S9 ; Chan AY10 ; Crow YJ11, 12 ; Dvorak CC10 ; Flinn AM13 ; Kapoor U14 ; Lankester A15 Show All Authors
Authors
  1. Buso H1, 2
  2. Adam E3
  3. Arkwright PD4
  4. Bhattad S5
  5. Hamidieh AA6
  6. Behfar M6
  7. Belot A8
  8. Benezech S9
  9. Chan AY10
  10. Crow YJ11, 12
  11. Dvorak CC10
  12. Flinn AM13
  13. Kapoor U14
  14. Lankester A15
  15. Kobayashi M16
  16. Matsumura R16
  17. Mottaghipisheh H17
  18. Okada S16
  19. Ouachee M9
  20. Parvaneh N18
  21. Ramprakash S19
  22. Satwani P14
  23. Sharafian S20
  24. Triaille C21, 22
  25. Wynn RF23
  26. Movahedi N25, 26
  27. Ziaee V26, 27
  28. Williams E2
  29. Slatter M2, 28
  30. Gennery AR2, 28
Show Affiliations
Authors Affiliations
  1. 1. Department of Medicine (DIMED), University of Padova, Padua, Italy
  2. 2. Paediatric Haematopoietic Stem Cell Transplant Unit, Great North Children’s Hospital, Newcastle Upon Tyne, NE1 4LP, United Kingdom
  3. 3. Sheba Medical Center, The Edmond and Lily Safra Children’s Hospital, Ramat Gan, Israel
  4. 4. Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom
  5. 5. Division of Paediatric Immunology and Rheumatology, Department of Paediatrics, Aster CMI Hospital, Bengaluru, India
  6. 6. Pediatric Cell and Gene Therapy Research Center, Gene, Cell & amp
  7. 7. Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Department of Paediatric Rheumatology, Femme-Mere-Enfant Hospital, HCL, Lyon, France
  9. 9. Institute of Hematology and Pediatric Oncology, Lyon, 69008, France
  10. 10. Division of Pediatric Allergy, Immunology, and Blood and Marrow Transplant, UCSF Benioff Children’s Hospital, University of California San Francisco, San Francisco, CA, United States
  11. 11. Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France
  12. 12. MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom
  13. 13. Department of Pediatric Immunology, Children’s Health Ireland at Crumlin, Dublin, Ireland
  14. 14. Division of of Pediatrics Haematology, Oncology and Stem Cell Transplant, Children’s Hospital New York-Presbyterian, Columbia University, 161 Fort Washington, Irving 7, New York, 10032, NY, United States
  15. 15. Department of Pediatrics, Willem-Alexander Children’s Hospital, Leiden University Medical Center, Leiden, Netherlands
  16. 16. Department of Pediatrics, Hiroshima University Hospital, 1‑2‑3 Kasumi, Minami‑ku, Hiroshima, 734‑8551, Japan
  17. 17. Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
  18. 18. Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
  19. 19. Aster International Institute of Oncology, Aster CMI Hospital, Bangalore, India
  20. 20. Department of Allergy and Clinical Immunology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  21. 21. Pole de Pathologies Rhumatismales Systemiques Et Inflammatoires, Institut de Recherche Experimentale Et Clinique, Universite Catholique de Louvain, Brussels, Belgium
  22. 22. Pediatric Immunology and Rheumatology Division, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada
  23. 23. Department of Paediatric Haematology & amp
  24. 24. Oncology, Royal Manchester Children’s Hospital, Manchester, United Kingdom
  25. 25. Golestan Rheumatology Research Center (GRRC), Golestan University of Medical Sciences, Gorgan, Iran
  26. 26. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
  27. 27. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
  28. 28. Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, United Kingdom

Source: Journal of Clinical Immunology Published:2025


Abstract

C1q deficiency is a rare inborn error of immunity characterized by increased susceptibility to infections and autoimmune manifestations mimicking SLE, with an associated morbidity and mortality. Because C1q is synthesized by monocytes, to date, four patients treated with allogeneic HSCT have been reported, with a positive outcome in three. We conducted an international retrospective study to assess the outcome of HSCT in C1q deficiency. Eighteen patients, fourteen previously unreported, from eleven referral centres, were included. Two patients had two HSCTs, thus 20 HSCTs were performed in total, at a median age of 10 years (range 0.9—19). Indications for HSCT were autoimmune manifestations not controlled by ongoing treatment in seventeen, and early development of MALT lymphoma in one patient. Overall survival (OS) was 71% and event-free survival was 59% at two years (considering an event as acute GvHD ≥ grade III, disease recurrence and death). In eleven patients HSCT led to resolution of autoimmune features and discontinuation of immunosuppressive treatments (follow-up time range 3–84 months). Five patients died due to transplant-related complications. Patients with a severe autoimmune phenotype, defined as neurological and/or renal involvement, had the worst OS (40% vs 84%; p = 0.034). Reviewing data of 69 genetically confirmed C1q deficient patients, we found that anti-Ro antibodies are associated with neurologic involvement, and anti-RNP and anti-DNA antibodies with renal involvement. In conclusion, HSCT may be a valid curative option for C1q deficiency, but careful selection of patients, with an accurate assessment of risk and benefit, is mandatory. © The Author(s) 2024.