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Case Reports
. 2016 Nov 29:2016:bcr2016217616.
doi: 10.1136/bcr-2016-217616.

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

Stefan Schlabe  1 , Carolynne Schwarze-Zander  1 , Peter Lohse  2 , Jürgen Kurt Rockstroh  1
Affiliations
Case Reports

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

Stefan Schlabe et al. BMJ Case Rep. .

Abstract

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.

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Conflict of interest statement

Conflicts of Interest: None declared.

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