Autosomal dominant hyper-IgE syndrome (AD-HIES) is an inborn error of immunity (IEI) caused by a dominant-negative mutation in the signal transducer and activator of transcription 3 (STAT 3). This disease is characterized by chronic eczematoid dermatitis, recurrent staphylococcal skin abscesses, pneumonia, pneumatoceles, and extremely high serum IgE levels. Loss-of-function STAT3 mutations may also result in distinct non-immunologic features such as dental, facial, skeletal, and vascular abnormalities, central nervous system malformations and an increased risk for bone fractures. Prophylactic treatment of Candida infections and prophylactic antimicrobial therapy for staphylococcal skin infections and sinopulmonary infections are essential. An awareness of the oral and maxillofacial features of HIES may facilitate early diagnosis with genetic counselling and may improve future patient care. This study describes oral, dental, and maxillofacial manifestations in 14 patients with genetically defined AD-HIES. We also review the literature and propose recommendations for the complex care of patients with this rare primary immunodeficiency.

中文翻译：

---

常染色体显性遗传性高 IgE 综合征患者的口内和颌面部异常

常染色体显性高 IgE 综合征 (AD-HIES) 是一种先天性免疫错误 (IEI)，由信号转导子和转录激活子 3 (STAT 3) 的显性失活突变引起。该病的特点是慢性湿疹样皮炎、复发性葡萄球菌皮肤脓肿、肺炎、气肿和血清IgE水平极高。STAT3 功能丧失突变还可能导致明显的非免疫特征，例如牙齿、面部、骨骼和血管异常、中枢神经系统畸形以及骨折风险增加。念珠菌感染的预防性治疗以及葡萄球菌皮肤感染和鼻窦肺部感染的预防性抗菌治疗至关重要。了解 HIES 的口腔和颌面部特征可能有助于通过遗传咨询进行早期诊断，并可能改善未来的患者护理。本研究描述了 14 名遗传性 AD-HIES 患者的口腔、牙齿和颌面部表现。我们还回顾了文献并提出了对这种罕见的原发性免疫缺陷患者进行复杂护理的建议。