Vagelos College of Physicians and Surgeons, Columbia University, New York City, NY, USA.
Department of Dermatology, Vagelos College of Physicians & Surgeons, Columbia University, New York City, NY, USA.
J Clin Immunol. 2023 Aug;43(6):1040-1051. doi: 10.1007/s10875-023-01518-3. Epub 2023 May 19.
Hidradenitis suppurativa (HS), also known as Verneuil's disease and acne inversa, is a prevalent, debilitating, and understudied inflammatory skin disease. It is marked by repeated bouts of pathological inflammation causing pain, hyperplasia, aberrant healing, and fibrosis. HS is difficult to manage and has many unmet medical needs. There is clinical and pharmacological evidence for extensive etiological heterogeneity with HS, suggesting that this clinical diagnosis is capturing a spectrum of disease entities. Human genetic studies provide robust insight into disease pathogenesis. They also can be used to resolve etiological heterogeneity and to identify drug targets. However, HS has not been extensively investigated with well-powered genetic studies. Here, we review what is known about its genetic architecture. We identify overlap in molecular, cellular, and clinical features between HS and inborn errors of immunity (IEI). This evidence indicates that HS may be an underrecognized component of IEI and suggests that undiagnosed IEI are present in HS cohorts. Inborn errors of immunity represent a salient opportunity for rapidly resolving the immunological landscape of HS pathogenesis, for prioritizing drug repurposing studies, and for improving the clinical management of HS.
化脓性汗腺炎（HS），也称为 Vern e u il 病和反向痤疮，是一种常见的、使人衰弱的、研究不足的炎症性皮肤病。其特征是反复出现病理性炎症，导致疼痛、增生、异常愈合和纤维化。HS 难以治疗，有许多未满足的医疗需求。HS 的临床和药理学证据表明其病因具有广泛的异质性，表明这一临床诊断涵盖了一系列疾病实体。人类遗传学研究为疾病发病机制提供了有力的见解。它们还可用于解决病因异质性并确定药物靶点。然而，HS 并没有经过广泛的、具有强大效能的遗传研究。在这里，我们回顾了其遗传结构的已知内容。我们发现 HS 与先天性免疫缺陷（IEI）之间存在分子、细胞和临床特征的重叠。这一证据表明，HS 可能是 IEI 的一个未被充分认识的组成部分，并表明在 HS 患者群体中存在未被诊断的 IEI。先天性免疫缺陷为快速解析 HS 发病机制的免疫学特征、优先开展药物再利用研究以及改善 HS 的临床管理提供了重要机会。
