title: Successful treatment of idiopathic colitis related to XIAP deficiency with allo-HSCT using reduced-intensity conditioning.
abstract: Recently, it has been reported that Crohn's-like intractable colitis occurred in approximately 20% of the patients with XIAP deficiency, also known as X-linked lymphoproliferative disease type 2. Because treatment used for Crohn's disease is not always effective for Crohn's-like colitis related to XIAP deficiency, more effective treatment should be established. Although several studies reported allo-HSCT might be promising even for Crohn's-like colitis related to XIAP deficiency, the outcome of allo-HSCT using MAC for XIAP deficiency is extremely poor due to frequent TRM. In addition, there is little information about the outcome of allo-HSCT for intractable colitis related to XIAP deficiency. Herein, we describe a patient with intractable colitis related to XIAP deficiency who was successfully treated with allo-HSCT using a reduced-intensity conditioning regimen. Although allo-HSCT using the RIC regimen might be a curative therapeutic option for intractable colitis with XIAP deficiency, the prognostic factors that will determine the success of allo-HSCT require further clinical information of more patients.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan; Department of Pediatrics, Japan Community Health Care Organization Kobe Central Hospital, Kobe, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Tsuma
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Imamura
authors.forename: Eisuke
authors.initials: E
authors.lastname: Ichise
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sakamoto
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Ouchi
authors.forename: Shinya
authors.initials: S
authors.lastname: Osone
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ishida
authors.forename: Taizo
authors.initials: T
authors.lastname: Wada
authors.forename: Hajime
authors.initials: H
authors.lastname: Hosoi
mesh_terms: D002648:Child; D003092:Colitis / Q000209:etiology* / Q000628:therapy*; D003131:Combined Modality Therapy; D040181:Genetic Diseases, X-Linked / Q000150:complications*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000150:complications*; D008297:Male; D012074:Remission Induction; D014184:Transplantation, Homologous
keywords: XIAP deficiency; hematopoietic stem cell transplantation; idiopathic colitis; reduced-intensity conditioning