Successful treatment of idiopathic colitis related to XIAP deficiency with allo‐HSCT using reduced‐intensity conditioning

• DOI: 10.1111/petr.12405
• Publication Date: 2014-11-21T06:10:42Z
• Authors: Yusuke Tsuma; Toshihiko Imamura; Eisuke Ichise; Kenichi Sakamoto; Kazutaka Ouchi; Shinya Osone; Hiroyuki Ishida; Taizo Wada; Hajime Hosoi
• Keywords: Male; 0303 health sciences; Remission Induction; Hematopoietic Stem Cell Transplantation; Genetic Diseases, X-Linked; Colitis; Combined Modality Therapy; Lymphoproliferative Disorders; 3. Good health; 03 medical and health sciences; Humans; Transplantation, Homologous; Child

AbstractRecently, 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.