Ontology highlight
ABSTRACT:
SUBMITTER: Ono S
PROVIDER: S-EPMC7101905 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Ono Shintaro S Okano Tsubasa T Hoshino Akihiro A Yanagimachi Masakatsu M Hamamoto Kazuko K Nakazawa Yozo Y Imamura Toshihiko T Onuma Masaei M Niizuma Hidetaka H Sasahara Yoji Y Tsujimoto Hiroshi H Wada Taizo T Kunisaki Reiko R Takagi Masatoshi M Imai Kohsuke K Morio Tomohiro T Kanegane Hirokazu H
Journal of clinical immunology 20161104 1
<h4>Background</h4>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.<h4 ...[more]