Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Abstract Background Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB‐Pr). Duplilumab, a fully humanized anti‐IL‐4Ra monoclonal antibody, can inhibit IL‐4 and IL‐13‐driven signaling. Methods Ethical Compliance:...

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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Caichou Zhao, Shuanglin Cao, Xinghua Gao, Xuegang Xu, Lixiong Gu
Format:	Article
Language:	English
Published:	Wiley 2023-11-01
Subjects:	COL7A1 variant dupilumab dystrophic epidermolysis bullosa pruriginosa effective treatment novel variant
Online Access:	https://doi.org/10.1002/mgg3.2258