Department of Dermatology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin, USA.
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Pediatr Dermatol. 2022 Nov;39(6):940-942. doi: 10.1111/pde.15072. Epub 2022 Jun 22.
Hyper-IgE syndromes (HIES) are a heterogeneous group of rare primary immunodeficiency diseases classically characterized by the triad of atopic dermatitis, and recurrent cutaneous and pulmonary infections. Autosomal dominant, loss-of-function STAT3 pathogenic variants are the most common genetic cause, which lead to deficiency of Th17 lymphocytes, impaired interferon gamma production, and IL-10 signal transduction, and an unbalanced IL-4 state. Dupilumab, a monoclonal antibody to the IL-4a receptor, inhibits both IL-4 and IL-13, and has been shown to improve atopic dermatitis and other manifestations of HIES including asthma and allergic bronchopulmonary aspergillosis. We present a pediatric patient with HIES who presented predominantly with eosinophilic folliculitis, recurrent cutaneous infections, and other non-eczematous findings and achieved sustained clearance with dupilumab.
高免疫球蛋白 E 综合征(HIES)是一组罕见的原发性免疫缺陷病,其特征为特应性皮炎、复发性皮肤和肺部感染三联征。常染色体显性、功能丧失型 STAT3 致病变异是最常见的遗传原因,导致 Th17 淋巴细胞缺乏、干扰素 γ 产生受损、IL-10 信号转导异常和 IL-4 状态失衡。度普利尤单抗是一种针对 IL-4a 受体的单克隆抗体,可抑制 IL-4 和 IL-13,已被证明可改善特应性皮炎和 HIES 的其他表现,包括哮喘和变应性支气管肺曲霉病。我们报告了一名儿科患者,其 HIES 主要表现为嗜酸性毛囊炎、复发性皮肤感染和其他非湿疹表现,并用度普利尤单抗实现了持续清除。