使用杜匹单抗可改善不同基因型高 IgE 综合征患儿的特应性皮炎和复发性感染：病例系列和文献综述

IF 1.2 4区医学 Q3 DERMATOLOGY Pediatric Dermatology Pub Date : 2025-03-01 Epub Date: 2024-10-18 DOI:10.1111/pde.15780

Jenna K Dick, Christina Boull, Tamara C Pozos, Sheilagh M Maguiness

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引用次数: 0

摘要

高免疫球蛋白 E 综合征（HIES）是一组罕见的遗传性疾病，以严重特应性皮炎和反复皮肤及肺部感染为特征。杜比鲁单抗对 HIES 相关重度特应性皮炎儿科患者的疗效研究相对较少。在此，我们介绍了三例 HIES 患儿，其中两例是由 STAT3 突变引起的 AD-HIES 患儿，另一例是由 ZNF341 双重突变引起的 AR-HIES 患儿。在所有病例中，dupilumab 治疗均能使严重特应性皮炎在数年内持续消失，并改善 HIES 的全身症状。

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Improvement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper-IgE Syndrome: A Case Series and Literature Review.

Hyperimmunoglobulin E syndrome (HIES) is a group of rare genetic disorders characterized by severe atopic dermatitis and recurrent skin and pulmonary infections. The efficacy of dupilumab in pediatric patients with HIES-associated severe atopic dermatitis is relatively understudied. Here, we present a series of three children with HIES, two with AD-HIES caused by STAT3 mutations, and one with AR-HIES caused by biallelic mutations in ZNF341. In all cases, dupilumab treatment led to sustained clearance of severe atopic dermatitis over multiple years, as well as improvements in systemic symptoms of HIES.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.