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Novel CD55 Mutation Associated With Severe Small Bowel Ulceration Mimicking Inflammatory Bowel Disease in a Pair of Siblings.

作者信息

Chongsrisawat Voranush, Suratannon Narissara, Chatchatee Pantipa, Ittiwut Rungnapa, Ittiwut Chupong, Weerapakorn Wanlapa, Theamboonlers Apiradee, Rohlfs Meino, Klein Christoph, Kotlarz Daniel, Suphapeetiporn Kanya

机构信息

Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Pediatric Allergy and Clinical Immunology Research Unit, Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.

出版信息

Inflamm Bowel Dis. 2022 Sep 1;28(9):1458-1461. doi: 10.1093/ibd/izac001.

DOI:10.1093/ibd/izac001
PMID:35134932
Abstract
摘要

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Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.突破障碍:单基因炎症性肠病发病机制中的上皮细胞贡献者。
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评价 pozelimab 在补体过度激活、血管病变性血栓形成和蛋白丢失性肠病伴有 CD55 缺陷患者中的疗效和安全性:一项开放标签的 2 期和 3 期研究。
Lancet. 2024 Feb 17;403(10427):645-656. doi: 10.1016/S0140-6736(23)02358-9. Epub 2024 Jan 23.