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Monogenetic disorders associated with eczema and elevated immunoglobulin E / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics ; (24): 908-912, 2021.
Article in Chinese | WPRIM | ID: wpr-907869
ABSTRACT
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.

Full text: Available Index: WPRIM (Western Pacific) Type of study: Prognostic study Language: Chinese Journal: Chinese Journal of Applied Clinical Pediatrics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Prognostic study Language: Chinese Journal: Chinese Journal of Applied Clinical Pediatrics Year: 2021 Type: Article