以湿疹和免疫球蛋白E升高为主要临床表现的单基因病

Monogenetic disorders associated with eczema and elevated immunoglobulin E

湿疹和血免疫球蛋白E(IgE)水平升高不仅是特应性皮炎的特征,也可能是皮肤相关单基因病以及某些综合征或免疫出生错误的表现之一,如高IgE综合征、Wiskott-Aldrich综合征,X连锁内分泌多腺体病肠病伴免疫调节异常综合征、Omenn综合征、非典型DiGeorge综合征、Comèl-Netherton综合征、皮肤屏障疾病伴消瘦综合征、脯氨酸酶缺乏症等。这些单基因病在儿童期可表现为严重的湿疹或湿疹样皮疹,另外部分疾病从婴儿期就可有IgE升高的表型。这些单基因病除湿疹样皮疹和IgE升高外,还会有其他相关表型,因此熟悉这些疾病的表型特点有助于临床更好地识别。早期识别并且对其进行有效的诊治管理,可改善预后。现从临床角度总结这些疾病的表型,帮助临床医师识别和进一步诊治这些疾病。

Eczema and elevated blood immunoglobulin E are not only characteristics of atopic dermatitis,but may also be a manifestation of skin-related monogenic diseases and certain syndromes or inborn error of immunity,such as hyper IgE syndrome,Wiskott-Aldrich syndrome,immune dysregulation,polyendocrinopathy,enteropathy,X-linked syndrome,Omenn syndrome,atypical DiGeorge syndrome,Comèl-Netherton syndrome,severe dermatitis-multiple allergies-metabolic wasting syndrome,and prolinase deficiency.These monogenic diseases are present as severe eczema or eczema-like rash in childhood,and some of them may have an elevated IgE phenotype from infancy.Besides eczema-like rash and elevated IgE,these monogenic diseases also have other associated phenotypes.Therefore,acquaintance with the phenotypic characteristics of these diseases contributes to better identification in clinical practice.Early identification and effective management of these diseases conduce to the improvement in the prognosis.In this paper,the phenotypes of these diseases would be summarized from a clinical perspective in an attempt to provide a basis for clinicians to identify and further manage these diseases.