Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology,...

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Detalles Bibliográficos
Autores principales: Mulders-Manders, C. M., Simon, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491100/
https://www.ncbi.nlm.nih.gov/pubmed/25990874
http://dx.doi.org/10.1007/s00281-015-0492-6
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author Mulders-Manders, C. M.
Simon, A.
author_facet Mulders-Manders, C. M.
Simon, A.
author_sort Mulders-Manders, C. M.
collection PubMed
description Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect.
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spelling pubmed-44911002015-07-08 Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? Mulders-Manders, C. M. Simon, A. Semin Immunopathol Review Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect. Springer Berlin Heidelberg 2015-05-20 2015 /pmc/articles/PMC4491100/ /pubmed/25990874 http://dx.doi.org/10.1007/s00281-015-0492-6 Text en © The Author(s) 2015 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Review
Mulders-Manders, C. M.
Simon, A.
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
title Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
title_full Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
title_fullStr Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
title_full_unstemmed Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
title_short Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
title_sort hyper-igd syndrome/mevalonate kinase deficiency: what is new?
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491100/
https://www.ncbi.nlm.nih.gov/pubmed/25990874
http://dx.doi.org/10.1007/s00281-015-0492-6
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