Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.

IF 7.2 2区医学 Q1 IMMUNOLOGY

Journal of Clinical Immunology Pub Date : 2024-11-15 DOI:10.1007/s10875-024-01837-z

Yannik Vollmuth, Narjes Abdulhameed Alelq, Franziska Sattler, Susanne Schmidt, Fabian Hauck

引用次数: 0

Abstract

Purpose: Netherton syndrome (NS) is a rare inborn error of immunity (IEI) with an incidence of approximately 1:200,000 and the phenotypic triad of trichorrhexis invaginate (bamboo hair), congenital ichthyosiform erythroderma, and multiple atopic manifestations. Treatment options especially in infants are scarce and generally not licensed.

Methods: Case report of a 9-week-old infant with NS treated with dupilumab off-label.

Results: We report rapid and sustained resolution of allergic inflammation, deep symptom control including normalization of the skin microbiome, and catch-up somatic and psychomotor development without adverse drug reactions.

Conclusion: Due to the high complication rate of NS, especially in the first years of life, we recommend treatment with dupilumab off-label immediately after the diagnosis has been established.

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杜匹单抗治疗 9 周大的奈瑟顿综合征患儿，症状得到深度控制。

目的：奈瑟顿综合征（NS）是一种罕见的先天性免疫错误（IEI），发病率约为1:200,000，表现为竹节状毛发、先天性鱼鳞状红斑和多种特应性表现。尤其是对婴儿的治疗方案很少，而且一般都没有获得许可：方法：病例报告：一名 9 周大的 NS 婴儿在无标签的情况下接受了杜匹单抗治疗：结果：我们报告了过敏性炎症的快速持续缓解、深度症状控制（包括皮肤微生物组正常化）以及躯体和精神运动发育的追赶，且无药物不良反应：结论：由于NS的并发症发生率较高，尤其是在患者出生后的最初几年，我们建议在确诊后立即使用标签外的杜必鲁单抗进行治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Clinical Immunology 医学-免疫学

CiteScore

12.20

自引率

9.90%

发文量

218

审稿时长

2 months

期刊介绍： The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.