9 周大 Netherton 综合征患儿使用度普利尤单抗治疗，深度缓解症状。
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.
机构信息
Department of Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstraße 4 , Munich, European Union (EU), D-80337 , Germany.
Department of Dermatology and Allergology, University Hospital, LMU Klinikum, European Union (EU), Munich, Germany.
出版信息
J Clin Immunol. 2024 Nov 15;45(1):42. doi: 10.1007/s10875-024-01837-z.
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.
目的
Netherton 综合征（NS）是一种罕见的先天性免疫缺陷病（IEI），发病率约为 1:200,000，其表型三联征为发内凹（竹状发）、先天性鱼鳞样红皮病和多种特应性表现。特别是在婴儿中，治疗选择非常有限，且通常未经许可。
方法
报告了一例 9 周大的 NS 婴儿，使用达必妥（dupilumab）进行超适应证治疗。
结果
我们报告了过敏炎症的快速和持续缓解，深度症状控制，包括皮肤微生物组的正常化，以及追赶性的身体和精神运动发育，没有药物不良反应。
结论
由于 NS 的高并发症发生率，尤其是在生命的最初几年，我们建议在确诊后立即使用达必妥进行超适应证治疗。
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