Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
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.



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



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



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.



The RIC regimen and HLH control might be important factors for successful HSCT outcomes, with improved IBD, in patients with XIAP deficiency.
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Shintaro
S
Ono
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Tsubasa
T
Okano
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Akihiro
A
Hoshino
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.|Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Masakatsu
M
Yanagimachi
Department of Pediatrics, Hiroshima Red Cross Hospital, Hiroshima, Japan.
Kazuko
K
Hamamoto
Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Yozo
Y
Nakazawa
Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
Toshihiko
T
Imamura
Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai, Japan.
Masaei
M
Onuma
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Hidetaka
H
Niizuma
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Yoji
Y
Sasahara
Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
Hiroshi
H
Tsujimoto
Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Kanazawa, Japan.
Taizo
T
Wada
Inflammatory Bowel Disease Centre, Yokohama City University Medical Centre, Yokohama, Japan.
Reiko
R
Kunisaki
Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Masatoshi
M
Takagi
Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Kohsuke
K
Imai
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Tomohiro
T
Morio
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. hkanegane.ped@tmd.ac.jp.
Hirokazu
H
Kanegane
D019943:Amino Acid Substitution; D003062:Codon; D006086:Graft vs Host Disease / Q000209:etiology; D019538:Health Care Surveys; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000628:therapy*; D007564:Japan; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000628:therapy; D009154:Mutation; D016019:Survival Analysis; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000172:deficiency*
D003062:Codon; D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human
Hematopoietic stem cell transplantation; X-linked lymphoproliferative syndrome; XIAP deficiency; hemophagocytic lymphohistiocytosis; inflammatory bowel disease; reduced intensity conditioning