Tagle C Maria Teresa, Melys G Alvaro, Castillo M Angela, Norambuena R Ximena, Quezada L Arnoldo
Rev Chil Pediatr. 2014 Jun;85(3):328-36. doi: 10.4067/S0370-41062014000300009.
Autosomal dominant Hyper IgE syndrome (HIES-AD) is a primary immunodeficiency associated with connective tissue, skeletal, vascular and brain disorders. The pathogenesis of immune deficiency lies in an alteration of Th17 cells which explains the special susceptibility of these patients to S. aureus and Candida infections.
To describe three children diagnosed with hyper IgE syndrome and conduct a study on the subject, with special focus on the dominant form of the disease.
3 children with HIES-AD (2 males and one female) with eczema since birth, skin, ear, lung, and lymph node infections, and serum IgE levels over 2,000 IU/ml and eosinophilia values, treated with antibiotics and topically, and 7 year follow-up.
It is a rare condition that requires a high index of suspicion and early management of infections. One of its main diagnoses is atopic syndrome with recurrent infections but both conditions differ in context, response and resolution against infections and lack of other phenotypic characteristics.
常染色体显性高免疫球蛋白E综合征（HIES-AD）是一种与结缔组织、骨骼、血管和脑部疾病相关的原发性免疫缺陷病。免疫缺陷的发病机制在于Th17细胞的改变，这解释了这些患者对金黄色葡萄球菌和念珠菌感染的特殊易感性。
描述三名被诊断为高免疫球蛋白E综合征的儿童，并对该疾病进行研究，特别关注其显性形式。
3例HIES-AD患儿（2男1女）自出生起即患有湿疹，有皮肤、耳部、肺部和淋巴结感染，血清IgE水平超过2000 IU/ml且有嗜酸性粒细胞增多，接受了抗生素治疗和局部治疗，并进行了7年随访。
这是一种罕见疾病，需要高度怀疑并尽早处理感染。其主要诊断之一是伴有反复感染的特应性综合征，但这两种疾病在感染的背景、反应和转归以及缺乏其他表型特征方面存在差异。
