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Allogeneic Hematopoietic Stem Cell Transplantation in the Treatment of Human C1q Deficiency: The Karolinska Experience
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Haematology. Karolinska Univ Hosp, Ctr Allogene Stem Cell Transplantat, Huddinge, Sweden.;Karolinska Inst, Dept Lab Med, Div Therapeut Immunol, SE-14186 Stockholm, Sweden..
Karolinska Univ Hosp, Dept Paediat, Stockholm, Sweden..
Sachs Childrens & Youth Hosp, Dept Clin Sci & Educ, Karolinska Inst, Sodersjukhuset, Stockholm, Sweden..
Karolinska Univ Hosp, Ctr Allogene Stem Cell Transplantat, Huddinge, Sweden.;Karolinska Inst, Dept Lab Med, Div Therapeut Immunol, SE-14186 Stockholm, Sweden..
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2016 (English)In: Transplantation, ISSN 0041-1337, E-ISSN 1534-6080, Vol. 100, no 6, 1356-1362 p.Article in journal (Refereed) PublishedText
Abstract [en]

Background. Human C1q deficiency is associated with systemic lupus erythematosus (SLE) and increased susceptibility to severe bacterial infections. These patients require extensive medical therapy and some develop treatment-resistant disease. Because C1q is produced by monocytes, it has been speculated that allogeneic hematopoietic stem cell transplantation (allo-HSCT) may cure this disorder. Methods. We have so far treated 5 patients with C1q deficiency. In 3 cases, SLE symptoms remained relatively mild after the start of medical therapy, but 2 patients developed treatment-resistant SLE, and we decided to pursue treatment with allo-HSCT. For this purpose, we chose a conditioning regimen composed of treosulfan (14 g/m(2)) and fludarabine (30 mg/m(2)) started on day -6 and given for 3 and 5 consecutive days, respectively. Thymoglobulin was given at a cumulative dose of 8 mg/ kg, and graft-versus-host disease prophylaxis was composed of cyclosporine and methotrexate. Results. A 9-year-old boy and a 12-year-old girl with refractory SLE restored C1q production after allo-HSCT. This resulted in normal functional properties of the classical complement pathway followed by reduced severity of SLE symptoms. The boy developed posttransplant lymphoproliferative disease, which resolved after treatment with rituximab and donor lymphocyte infusion. Unfortunately, donor lymphocyte infusion induced severe cortisone-resistant gastrointestinal graft-versus-host disease, and the patient died from multiple organ failure 4 months after transplantation. The girl is doing well 33 months after transplantation, and clinically, all signs of SLE have resolved. Conclusions. Allo-HSCT can cure SLE in human C1q deficiency and should be considered early in subjects resistant to medical therapy.

Place, publisher, year, edition, pages
2016. Vol. 100, no 6, 1356-1362 p.
National Category
Immunology in the medical area Hematology
URN: urn:nbn:se:uu:diva-298866DOI: 10.1097/TP.0000000000000975ISI: 000377126600032PubMedID: 26516671OAI: oai:DiVA.org:uu-298866DiVA: diva2:948316
Swedish Society for Medical Research (SSMF)
Available from: 2016-07-11 Created: 2016-07-11 Last updated: 2016-07-11Bibliographically approved

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