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Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide.
Biol Blood Marrow Transplant. 2017 Jun; 23(6):980-990.BB

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.

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Authors+Show Affiliations

Shah NN
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address: Nirali.Shah@nih.gov.
Freeman AF
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Su H
Laboratory of Host Defense, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Cole K
Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Parta M
Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland.
Moutsopoulos NM
Oral Immunity and Inflammation Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.
Baris S
Division of Pediatric Allergy and Immunology, Ministry of Health, Marmara University, Training and Research Hospital, Istanbul, Turkey.
Karakoc-Aydiner E
Division of Pediatric Allergy and Immunology, Ministry of Health, Marmara University, Training and Research Hospital, Istanbul, Turkey.
Hughes TE
Clinical Center Pharmacy Department, National Institutes of Health, Bethesda, Maryland.
Kong HH
Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Holland SM
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Hickstein DD
Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

MeSH

CyclophosphamideGraft vs Host DiseaseGuanine Nucleotide Exchange FactorsHematopoietic Stem Cell TransplantationHumansImmunologic Deficiency SyndromesSurvival RateTransplantation ConditioningTransplantation, HaploidenticalTreatment Outcome

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28288951

Citation

Shah, Nirali N., et al. "Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide." Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, vol. 23, no. 6, 2017, pp. 980-990.
Shah NN, Freeman AF, Su H, et al. Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide. Biol Blood Marrow Transplant. 2017;23(6):980-990.
Shah, N. N., Freeman, A. F., Su, H., Cole, K., Parta, M., Moutsopoulos, N. M., Baris, S., Karakoc-Aydiner, E., Hughes, T. E., Kong, H. H., Holland, S. M., & Hickstein, D. D. (2017). Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide. Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 23(6), 980-990. https://doi.org/10.1016/j.bbmt.2017.03.016
Shah NN, et al. Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide. Biol Blood Marrow Transplant. 2017;23(6):980-990. PubMed PMID: 28288951.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide. AU - Shah,Nirali N, AU - Freeman,Alexandra F, AU - Su,Helen, AU - Cole,Kristen, AU - Parta,Mark, AU - Moutsopoulos,Niki M, AU - Baris,Safa, AU - Karakoc-Aydiner,Elif, AU - Hughes,Thomas E, AU - Kong,Heidi H, AU - Holland,Steve M, AU - Hickstein,Dennis D, Y1 - 2017/03/10/ PY - 2017/02/05/received PY - 2017/03/09/accepted PY - 2017/3/16/pubmed PY - 2018/3/8/medline PY - 2017/3/15/entrez KW - Dedicator-of-cytokinesis-8 (DOCK8) deficiency KW - Haploidentical transplantation KW - Immune reconstitution SP - 980 EP - 990 JF - Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation JO - Biol Blood Marrow Transplant VL - 23 IS - 6 N2 - 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. SN - 1523-6536 UR - https://www.unboundmedicine.com/medline/citation/28288951/Haploidentical_Related_Donor_Hematopoietic_Stem_Cell_Transplantation_for_Dedicator_of_Cytokinesis_8_Deficiency_Using_Post_Transplantation_Cyclophosphamide_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1083-8791(17)30335-X DB - PRIME DP - Unbound Medicine ER -