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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

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CASE REPORT
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
  1. Stefan Schlabe1,
  2. Carolynne Schwarze-Zander1,
  3. Peter Lohse2,
  4. Jürgen Kurt Rockstroh1
  1. 1Department of Internal Medicine I, Universitatsklinikum Bonn, Bonn, Germany
  2. 2Institute for Laboratory Medicine and Human Genetics, Singen, Germany
  1. Correspondence to Dr Stefan Schlabe, Stefan.Schlabe{at}ukb.uni-bonn.de

Summary

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 patient with a history of fever over a period of 27 years.

https://doi.org/10.1136/bcr-2016-217616

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    Footnotes

    • Contributors JKR took care for the patient and initiated the case report. The case and the clinical background were discussed with CS-Z and PL. CS-Z made substantial discussions and proofreading. SS wrote the draft together with JKR. The genetic background was discussed by PL. All four authors approved the final version. JKR and SS take responsibility for the case report as a whole. SS takes responsibility for journal style and formal issues.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.