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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Autores principales: D. V. Osypchuk, A. M. Hilfanova
Formato: article
Lenguaje:EN
RU
UK
Publicado: Group of Companies Med Expert, LLC 2020
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Acceso en línea:https://doaj.org/article/3b180bfd939a4325a128f056a6d98684
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