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 |
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Formato: | article |
Lenguaje: | EN RU UK |
Publicado: |
Group of Companies Med Expert, LLC
2020
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Materias: | |
Acceso en línea: | https://doaj.org/article/3b180bfd939a4325a128f056a6d98684 |
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