Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.
Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Curr Allergy Asthma Rep. 2018 Aug 15;18(10):51. doi: 10.1007/s11882-018-0806-6.
The hyper IgE syndromes (HIES) comprise a group of rare primary immunodeficiency disorders (PIDDs), which are characterized by extremely high serum IgE levels, eczema, recurrent skin and pulmonary infections. Both autosomal dominant (AD) HIES due to STAT3 mutations and autosomal recessive (AR) HIES due to PGM3, SPINK5, DOCK8 and TKY2 mutations have been reported. Here, we aim to summarize and compare the major clinical manifestations of different subtypes of HIES. We will also discuss otitis media, which usually do not get enough attention in HIES. Update and familiarity with these clinical features will help to make a better diagnose, assessment and treatment of HIES.
Although hyper serum IgE levels have been identified in PGM3 deficiency and Comel-Netherton syndrome, PGM3 and SPINK5 genes were not included in the list of genetic etiologies of AR-HIES by the Expert Committee of the International Union of Immunological Societies until 2015. The identification of these HIES-causing genes greatly promoted the pathogenic mechanism studies of HIES. Also, in recent years, more clinical manifestations, which were often not of concern in HIES patients, have been shown to be highly related to HIES. For example, a significantly high frequency of vascular and gastrointestinal abnormities has been reported in STAT3-deficient AD-HIES patients. These new findings might help to provide new clues to the functional study of these HIES-related genes. This review summarizes and compares the major clinical manifestations of different subtypes of HIES, and we suggest that the incidence and severity of otitis media should not be underestimated in HIES patients.
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（PIDDs），其特征为血清 IgE 水平极高、湿疹、反复皮肤和肺部感染。常染色体显性（AD）HIES 由 STAT3 突变引起，常染色体隐性（AR）HIES 由 PGM3、SPINK5、DOCK8 和 TKY2 突变引起。本文旨在总结和比较不同亚型 HIES 的主要临床表现，并讨论在 HIES 中常被忽视的中耳炎。了解这些临床特征有助于更好地诊断、评估和治疗 HIES。
尽管在 PGM3 缺乏症和 Comel-Netherton 综合征中发现了高血清 IgE 水平，但直到 2015 年，国际免疫学会联盟专家委员会才将 PGM3 和 SPINK5 基因列入 AR-HIES 的遗传病因列表中。这些 HIES 致病基因的鉴定极大地促进了 HIES 的发病机制研究。此外，近年来，HIES 患者中经常被忽视的更多临床表现与 HIES 高度相关。例如，STAT3 缺陷的 AD-HIES 患者的血管和胃肠道异常发生率明显较高。这些新发现可能有助于为这些 HIES 相关基因的功能研究提供新线索。本综述总结和比较了不同亚型 HIES 的主要临床表现，并建议不应低估 HIES 患者中耳炎的发生率和严重程度。
