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X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report.
Clinical Immunology ( IF 8.6 ) Pub Date : 2020-06-12 , DOI: 10.1016/j.clim.2020.108495
Ichiro Takeuchi 1 , Toshinao Kawai 2 , Meika Nambu 2 , Ohsuke Migita 3 , Satoshi Yoshimura 4 , Kenichi Nishimura 5 , Takako Yoshioka 6 , Masao Ogura 7 , Reiko Kyodo 1 , Hirotaka Shimizu 1 , Shuichi Ito 5 , Motohiro Kato 4 , Masafumi Onodera 2 , Kenichiro Hata 3 , Yoichi Matsubara 8 , Katsuhiro Arai 1
Affiliation  

X-linked inhibitor of apoptosis protein (XIAP) deficiency results in monogenic inflammatory bowel disease. To date, no vasculitis associated with XIAP deficiency has been reported. A 10-year-old boy was diagnosed with Crohn's disease and he responded poorly to conventional treatment for Crohn's disease. He was dependent on corticosteroids and parenteral nutrition. To manage severe colitis, he underwent ileostomy followed by ileocolectomy for an ileo-sigmoid fistula. At the age of 15 years, he developed IgA vasculitis and at the age of 17 years, he developed refractory Takayasu arteritis (TAK), which was resistant to corticosteroid and immunosuppressive therapy. Whole-exome sequencing revealed a novel mutation of the splice acceptor site in XIAP (c.1057-1G > A) at the age of 19 years. Allogeneic hematopoietic stem cell transplantation was successful with subsequent withdrawal of intensive immunosuppressive therapy and clinical remission of both enterocolitis and TAK. This case suggests that patients with XIAP deficiency could develop intractable inflammatory disease involving the intestinal tract and blood vessels.



中文翻译:

X连锁的细胞凋亡蛋白缺乏抑制剂并发克罗恩病样小肠结肠炎和Takayasu动脉炎:1例报道。

X连锁的凋亡蛋白抑制剂(XIAP)缺乏会导致单基因性炎症性肠病。迄今为止,尚无与XIAP缺乏症相关的血管炎的报道。一个10岁的男孩被诊断​​出患有克罗恩氏病,他对克罗恩氏病的常规治疗反应不佳。他依靠皮质类固醇和肠胃外营养。为了处理严重的结肠炎,他接受了回肠造口术,然后进行回肠结肠切除术治疗回肠乙状结肠瘘。他在15岁时患上IgA血管炎,在17岁时患上了对皮质类固醇和免疫抑制疗法有抵抗力的难治性高隆动脉炎(TAK)。全外显子测序揭示了19岁时XIAP中剪接受体位点的新突变(c.1057-1G> A)。异体造血干细胞移植成功,随后撤消了强化免疫抑制治疗,小肠结肠炎和TAK的临床缓解。该病例表明,XIAP缺乏症患者可能会发展出难治性炎性疾病,涉及肠道和血管。

更新日期:2020-06-23
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