{"title":"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。","authors":"Yannik Vollmuth, Narjes Abdulhameed Alelq, Franziska Sattler, Susanne Schmidt, Fabian Hauck","doi":"10.1007/s10875-024-01837-z","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>Case report of a 9-week-old infant with NS treated with dupilumab off-label.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"42"},"PeriodicalIF":7.2000,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568019/pdf/","citationCount":"0","resultStr":"{\"title\":\"Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.\",\"authors\":\"Yannik Vollmuth, Narjes Abdulhameed Alelq, Franziska Sattler, Susanne Schmidt, Fabian Hauck\",\"doi\":\"10.1007/s10875-024-01837-z\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>Case report of a 9-week-old infant with NS treated with dupilumab off-label.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":15531,\"journal\":{\"name\":\"Journal of Clinical Immunology\",\"volume\":\"45 1\",\"pages\":\"42\"},\"PeriodicalIF\":7.2000,\"publicationDate\":\"2024-11-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568019/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Immunology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10875-024-01837-z\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"IMMUNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Immunology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10875-024-01837-z","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"IMMUNOLOGY","Score":null,"Total":0}
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.
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.
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.
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