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Inflammatory arthritis
Short report
Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)

Authors

  • Laurent Messer Service de Rhumatologie, Hôpitaux Civils de Colmar, Colmar, France PubMed articlesGoogle scholar articles
  • Ghada Alsaleh Faculté de Médecine, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, LabEx Transplantex, Centre de Recherche d'Immunologie et d'Hématologie, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France PubMed articlesGoogle scholar articles
  • Philippe Georgel Faculté de Médecine, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, LabEx Transplantex, Centre de Recherche d'Immunologie et d'Hématologie, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France PubMed articlesGoogle scholar articles
  • Raphael Carapito Faculté de Médecine, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, LabEx Transplantex, Centre de Recherche d'Immunologie et d'Hématologie, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France PubMed articlesGoogle scholar articles
  • Hans R Waterham Laboratory Genetic Metabolic Diseases (F0–222), Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Nassim Dali-Youcef Laboratoire de Biochimie et de Biologie Moléculaire, Hôpitaux Universitaires de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC)/CNRS UMR 7104/INSERM U 964/Université de Strasbourg, Illkirch, France PubMed articlesGoogle scholar articles
  • Siamak Bahram Faculté de Médecine, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, LabEx Transplantex, Centre de Recherche d'Immunologie et d'Hématologie, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France PubMed articlesGoogle scholar articles
  • Jean Sibilia Faculté de Médecine, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, LabEx Transplantex, Centre de Recherche d'Immunologie et d'Hématologie, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France Service de Rhumatologie, Centre National de Référence pour les Maladies Systémiques Autoimmunes Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Jean Sibilia; jean.sibilia{at}chru-strasbourg.fr
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Citation

Messer L, Alsaleh G, Georgel P, et al
Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)
RMD Open 2016;2:e000196. doi: 10.1136/rmdopen-2015-000196

Publication history

  • Received October 12, 2015
  • Revision received November 19, 2015
  • Accepted November 26, 2015
  • First published March 7, 2016.
Online issue publication 
July 18, 2023

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/