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Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide

  1. Author:
    Shah, Nirali N.
    Freeman, Alexandra F.
    Su, Helen
    Cole, Kristen
    Parta, Mark
    Moutsopoulos, Niki M.
    Baris, Safa
    Karakoc-Aydiner, Elif
    Hughes, Thomas E.
    Kong, Heidi H.
    Holland, Steve M.
    Hickstein, Dennis D.

  2. Author Address

    NCI, Pediat Oncol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA.NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.NIAID, Host Def Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.NCI, Expt Transplantat & Immunol Branch, NIH, Bethesda, MD 20892 USA.Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Clin Res Directorate, Clin Monitoring Res Program, Frederick, MD USA.Natl Inst Dent & Craniofacial Res, Oral Immun & Inflammat Unit, NIH, Bethesda, MD USA.Marmara Univ, Training & Res Hosp, Div Pediat Allergy & Immunol, Minist Hlth, Istanbul, Turkey.NIH, Clin Ctr Pharm Dept, Bldg 10, Bethesda, MD 20892 USA.NCI, Dermatol Branch, Ctr Canc Res, NIH, Bldg 10, Bethesda, MD 20892 USA.
    1. Year: 2017
    2. Date: Jun
  2. Journal: BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
  3. ELSEVIER SCIENCE INC,
    1. 23
    2. 6
    3. Pages: 980-990
  5. Type of Article: Article
  6. ISSN: 1083-8791
  1. Abstract:

    Dedicator-of-cytokinesis 8 (DOCK8) deficiency, a primary immunodeficiency disease, can be reversed by allogeneic hematopoietic stem cell transplantation (HSCT); however, there are few reports describing the use of alternative donor sources for HSCT in DOCK8 deficiency. We describe HSCT for patients with DOCK8 deficiency who lack a matched related or unrelated donor using bone marrow from haploidentical related donors and post-transplantation cyclophosphamide (PT/Cy) for graft-versus-host disease (GVHD) prophylaxis. Seven patients with DOCK8 deficiency (median age, 20 years; range, 7 to 25 years) received a haploidentical related donor HSCT. The conditioning regimen included 2 days of low-dose cyclophosphamide, 5 days of fludarabine, 3 days of busulfan, and 200 cGy total body irradiation. GVHD prophylaxis consisted of PT/Cy 50 mg/kg/day on days +3 and +4 and tacrolimus and mycophenolate mofetil starting at day +5. The median times to neutrophil and platelet engraftment were 15 and 19 days, respectively. All patients attained >90% donor engraftment by day +30. Four subjects developed acute GVHD (1 with maximum grade 3). No patient developed chronic GVHD. With a median follow-up time of 20.6 months (range, 9.5 to 31.7 months), 6 of 7 patients are alive and disease free. Haploidentical related donor HSCT with PT/Cy represents an effective therapeutic approach for patients with DOCK8 deficiency who lack a matched related or unrelated donor. Published by Elsevier Inc. on behalf of the American Society for Blood and Marrow Transplantation.

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External Sources

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  2. DOI: 10.1016/j.bbmt.2017.03.016
  3. View record in Web of Science®
  4. WOS: 000402445700017

Library Notes

  1. Fiscal Year: FY2016-2017
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