Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita

“…Various regimens have been examined, but there is not yet a commonly accepted standard. 9,12,14,[18][19][20][21][22][23][24][25][26][27][28][29][30] Table 3 summarizes the reported experience of HCT for patients with DC using reducedintensity conditioning, including specifics of donors, regimens and outcomes. Kaplan-Meier analysis revealed that overall cumulative survival was 65%, with related donor recipients having better survival compared with unrelated donor transplants (91 vs 30%, respectively, P ¼ 0.05).…”

“…Although the use of cyclophosphamide at higher doses may result in significant morbidity and potentially mortality, reduction in the total dose by inclusion of agents like fludarabine has resulted in reduction in toxicity and better survival. 21,22,26 Use of TBI in DC patients is also considered undesirable because of its toxicity profile, including potential pulmonary, hepatic and dermatologic complications. 9,35 This is described primarily with full-dose TBI, as opposed to the low-dose TBI used in this protocol, which has previously been successful in DC patients.…”

“…This strongly immunosuppressive, less myeloablative agent has been used successfully in reduced-intensity conditioning for a variety of settings including acquired severe aplastic anemia, 30 other BMF syndromes such as FA, 8 and previously in DC. [19][20][21][22]25,26 Fludarabine is generally well tolerated with limited extra-medullary toxicity. Conventional HCT agents that may have severe organspecific toxicity, especially pulmonary and hepatic complications, include BU 31,32 and melphalan.…”

“…9,35 This is described primarily with full-dose TBI, as opposed to the low-dose TBI used in this protocol, which has previously been successful in DC patients. 21,25 The additional consideration of patient positioning to achieve partial pulmonary compensational shielding is an important aspect to the continued inclusion of low-dose TBI in the reducedintensity conditioning regimen. Although the elimination of TBI may result in decreased toxicity and late complications, this may increase the risk for graft failure.…”

Successful T-cell–depleted Haploidentical Hematopoietic Stem Cell Transplantation in a Child With Dyskeratosis Congenita After a Fludarabine-based Conditioning Regimen

“…All successful HSCT from alternative donors reported in the literature have been performed with the incorporation of fludarabine into the conditioning regimen. 7,10, [12][13][14][15][16]18,19,23,24 Fludarabine is a potent T-cell immunosuppressive agent, which has been reported to lead to early and stable engraftment with minimal toxicity in patients with malignant and nonmalignant disorders who were unable to tolerate conventional myeloablative therapy. 7,9,21,22 Recently, Vuong et al 19 reported a successful HSCT in a 21-year-old male with DC after conditioning with only fludarabine and ATG.…”