title: 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.
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.
authors.affiliation: Department of Internal Medicine I, Universitatsklinikum Bonn, Bonn, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Schlabe
authors.affiliation: Department of Internal Medicine I, Universitatsklinikum Bonn, Bonn, Germany.
authors.forename: Carolynne
authors.initials: C
authors.lastname: Schwarze-Zander
authors.affiliation: Institute for Laboratory Medicine and Human Genetics, Singen, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Lohse
authors.affiliation: Department of Internal Medicine I, Universitatsklinikum Bonn, Bonn, Germany.
authors.forename: Jürgen Kurt
authors.initials: JK
authors.lastname: Rockstroh
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000235:genetics*; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000235:genetics*; D007072:Immunoglobulin D / Q000378:metabolism*; D008297:Male; D020125:Mutation, Missense; D013577:Syndrome
chemical_list: D007072:Immunoglobulin D