Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

J Clin Immunol. 2017 Jan;37(1):85-91. doi: 10.1007/s10875-016-0348-4. Epub 2016 Nov 4.


Background: X-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare immunodeficiency that is characterized by recurrent hemophagocytic lymphohistiocytosis (HLH) and splenomegaly and sometimes associated with refractory inflammatory bowel disease (IBD). Although hematopoietic stem cell transplantation (HSCT) is the only curative therapy, the outcomes of HSCT for XIAP deficiency remain unsatisfactory compared with those for SLAM-associated protein deficiency and familial HLH.

Aim: To investigate the outcomes and adverse events of HSCT for patients with XIAP deficiency, a national survey was conducted.

Methods: A spreadsheet questionnaire was sent to physicians who had provided HSCT treatment for patients with XIAP deficiency in Japan.

Results: Up to the end of September 2016, 10 patients with XIAP deficiency had undergone HSCT in Japan, 9 of whom (90%) had survived. All surviving patients had received a fludarabine-based reduced intensity conditioning (RIC) regimen. Although 5 patients developed post-HSCT HLH, 4 of them survived after etoposide administration. In addition, the IBD associated with XIAP deficiency improved remarkably after HSCT in all affected cases.

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

Keywords: Hematopoietic stem cell transplantation; X-linked lymphoproliferative syndrome; XIAP deficiency; hemophagocytic lymphohistiocytosis; inflammatory bowel disease; reduced intensity conditioning.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Codon
  • Graft vs Host Disease / etiology
  • Health Care Surveys
  • Hematopoietic Stem Cell Transplantation* / adverse effects
  • Hematopoietic Stem Cell Transplantation* / methods
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / mortality
  • Immunologic Deficiency Syndromes / therapy*
  • Japan
  • Lymphohistiocytosis, Hemophagocytic / diagnosis
  • Lymphohistiocytosis, Hemophagocytic / genetics
  • Lymphohistiocytosis, Hemophagocytic / mortality
  • Lymphohistiocytosis, Hemophagocytic / therapy
  • Mutation
  • Survival Analysis
  • Transplantation Conditioning
  • Transplantation, Homologous
  • Treatment Outcome
  • X-Linked Inhibitor of Apoptosis Protein / deficiency*


  • Codon
  • X-Linked Inhibitor of Apoptosis Protein
  • XIAP protein, human