Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

Abstract

The RIC regimen and HLH control might be important factors for successful HSCT outcomes, with improved IBD, in patients with XIAP deficiency.

The role of allogeneic hematopoietic stem cell transplantation and Epstein‐Barr virus infection on the treatment for child primary hemophagocytic lymphohistiocytosis patients with X‐linked lymphoproliferative disease: A rare case report and family survey study

“…Therefore, it was believed in some studies that, for child XLP‐2 patients, allo‐HSCT remains significant to ensuring a long‐term survival . At present, the survival rate of allo‐HSCT roughly ranges between 14% and 86% among the patient with XIAP defect . Therefore, allo‐HSCT does not necessarily guarantee the long‐term survival for patients with XIAP defect.…”

“…Until now, the allo‐HSCT is considered to be the most effective therapy for the pHLH. Nevertheless, the survival rate after transplantation is merely about 14%‐86% for XLP‐2 patients …”

Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency

“…21,22 In addition, in X-linked inhibitor of apoptosis protein (XIAP) deficiency, poor outcomes post-Allo-HSCT have been reported, with high rates of transplant-related mortality (TRM), 23 although a recent article has described excellent outcome for 10 Japanese patients (all ,17 years) undergoing RIC-conditioned HSCT. 24 Given the reduced toxicity of RIC regimens, these appear to be better tolerated in patients with PID who often have significant organ dysfunction and associated elevated hematopoietic cell transplant-comorbidity index (HCT-CI) scores 25 pretransplant. Elsewhere, others have used low-toxicity myeloablative conditioning regimens incorporating targeted treosulfan with excellent results in children.…”

How i treat primary haemophagocytic lymphohistiocytosis

“…More recently, RIC approaches have been shown to improve survival for patients with HLH. Survival with a regimen consisting of alemtuzumab, fludarabine, and melphalan is generally greater than 70% (Table V) (Booth et al, 2011;Cooper et al, 2006Cooper et al, , 2008Marsh et al, 2015Marsh et al, , 2010bOno et al, 2017). Again, patients with XIAP deficiency seem to have lower survival (Marsh et al, 2013b), but survival appears to be greater than 80% when these patients are transplanted with RIC during HLH remission (Marsh et al, 2013b;Ono et al, 2017).…”