Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report

Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive combined immunodeficiency within the spectrum of hyper-IgE syndromes. Here we report a patient with a novel heterozygous mutation in DOCK8 gene associated with a clinical presentation of hyper-IgE syndrome (HIES). A case report....

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Bibliographic Details
Main Authors: D. V. Osypchuk, A. M. Hilfanova
Format: Article
Language:English
Published: Group of Companies Med Expert, LLC 2020-02-01
Series:Сучасна педіатрія: Україна
Subjects:
Online Access:http://mpu.med-expert.com.ua/article/view/206707