An Update on Syndromes with a Hyper-IgE Phenotype
An Update on Syndromes with a Hyper-IgE Phenotype
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DOI：
10.1016/j.iac.2018.08.007
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发表时间：
2019-02-01
影响因子：
2.6
通讯作者：
Freeman, Alexandra F.
中科院分区：
文献类型：
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作者：
Bergerson, Jenna R. E.;Freeman, Alexandra F.
基因检测的改进已经允许特异性地描述几种不同的临床原因，其特征在于湿疹的高免疫球蛋白E（IgE）表型、复发性感染和血清IgE升高。STAT3、DOCK8、PGM3、ERBIN、IL6ST和CARD11中的突变导致可以以这种方式存在的临床表型。本文重点关注导致常染色体显性高IgE综合征和胞质分裂8缺陷的功能丧失STAT 3突变，并讨论其他最近描述的疾病。
Improvement in genetic testing has allowed specific delineation of several distinct clinical causes characterized by the hyperimmunoglobulin E (IgE) phenotype of eczema, recurrent infections, and elevated serum IgE. Mutations in STAT3, DOCK8, PGM3, ERBIN, IL6ST, and CARD11 cause clinical phenotypes that can present in this manner. This article focuses on loss of function STAT3 mutations causing autosomal-dominant hyper-IgE syndrome and dedicator of cytokinesis 8 deficiency, with discussion of other more recently described diseases.