Advances of Dupilumab in Treating Rare Monogenic Inherited Skin Diseases
10.12376/j.issn.2097-0501.2023.02.017
- VernacularTitle:度普利尤单抗在罕见单基因遗传性皮肤病中的应用进展
- Author:
Yuqiao ZHANG
1
;
Yueping ZENG
2
Author Information
1. Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, National Clinical Research Center for Dermatologic and Immunologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.Eight-year Degree in Clinical Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
2. Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, National Clinical Research Center for Dermatologic and Immunologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
- Publication Type:Review
- Keywords:
dupilumab;
monogenic inherited skin diseases;
Netherton syndrome;
hyper-IgE syndrome
- From:
JOURNAL OF RARE DISEASES
2023;2(2):294-302
- CountryChina
- Language:Chinese
-
Abstract:
Monogenic inherited skin diseases are a group of clinically rare diseases that include nearly 1000 phenotypically distinct disorders. Through the concerted efforts of researchers in dermatological sciences and related disciplines worldwide, many advances have been made in the etiology and pathogenesis of these diseases in the last 30 years. However, it is important to note that the treatment of the majority of monogenic inherited skin diseases remains a challenge for clinicians. Dupilumab is a fully human monoclonal IgG4 antibody that specifically binds to the α subunit of the IL-4 receptor, thereby inhibiting the IL-4 and IL-13 signaling pathway. It was first approved for the treatment of moderate-to-severe atopic dermatitis (AD) and has been used worldwide. In recent years, the drug has been successfully used to treat some monogenic inherited skin diseases with AD-like clinical manifestations, such as hyper-IgE syndrome and Netherton syndrome, with good efficacy. The drug was later tried for the treatment of other monogenic inherited skin diseases, such as Hailey-Hailey syndrome and epidermolysis bullosa pruriginosa, where it was also proven to be effective. In this paper, we review literature reports related to dupilumab for the treatment of monogenic inherited skin diseases in recent years, focusing on its efficacy, safety and possible therapeutic mechanisms. We aim to provide a possible scientific basis for the future application of this drug in the field of rare monogenic inherited skin diseases.
