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Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever

Hereditary autoinflammatory syndromes are a rare, but notable cause of fever of unknown origin. During the last few years, the knowledge of the genetic background has significantly increased. Here, we report a novel pathogenic mutation in the MVK gene as the cause of fever in a 44-year-old male pati...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:BMJ Case Rep
Hauptverfasser: Schlabe, Stefan, Schwarze-Zander, Carolynne, Lohse, Peter, Rockstroh, Jürgen Kurt
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5174846/
https://ncbi.nlm.nih.gov/pubmed/27899390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-217616
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