کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2101550 1546266 2015 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Matched Related and Unrelated Donor Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
پیش نمایش صفحه اول مقاله
Matched Related and Unrelated Donor Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency
چکیده انگلیسی

We performed allogeneic hematopoietic stem cell transplantation in 6 patients with mutations in the dedicator-of-cytokinesis-8 (DOCK8) gene using a myeloablative conditioning regimen consisting of busulfan 3.2 mg/kg/day i.v. for 4 days and fludarabine 40 mg/m2/day for 4 days. Three patients received allografts from matched related donors and 3 patients from matched unrelated donors. Two patients received peripheral blood stem cells and 4 patients bone marrow hematopoietic stem cells. Tacrolimus and short-course methotrexate on days 1, 3, 6, and 11 were used for graft-versus-host-disease (GVHD) prophylaxis. All 6 patients are alive at a median follow-up of 22.5 months (range, 14 to 35). All patients achieved rapid and high levels of donor engraftment and complete reversal of the clinical and immunologic phenotype. Adverse events consisted of acute skin GVHD in 2 patients and post-transplant pulmonary infiltrates in a patient with extensive bronchiectasis pretransplant. Thus, a uniform myeloablative conditioning regimen followed by allogeneic hematopoietic stem cell transplantation in DOCK8 deficiency results in reconstitution of immunologic function and reversal of the clinical phenotype with a low incidence of regimen-related toxicity.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 21, Issue 6, June 2015, Pages 1037–1045
نویسندگان
, , , , , , , , , , , , , ,