[Molecular diagnostics of hereditary fever syndromes. Familial Mediterranean fever (FMF), hyperimmunoglobulin D syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS: FCAS, MWS, NOMID/CINCA)].
Periodic episodes of fever and inflammation can have a genetic origin. Nowadays, the identification of the causative genetic variants in the majority of cases allows molecular genetic confirmation of the clinical diagnosis, which enables approaches with specific drug treatment and improves patient compliance as well as genetic counseling. Besides a detailed clinical examination a medical history including family history and an assessment of the ethnic origin are required. In order to make genetic testing straightforward and cost effective an iterative procedure should be followed which should include, in addition to clinical data, the frequencies of causative mutations in the various gene segments involved.
Timmann
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C
Abteilung für Tropenmedizinische Grundlagenforschung, Bernhard-Nocht-Institut für Tropenmedizin, 20359 Hamburg. timmann@bni.uni-hamburg.de
Horstmann
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R
D003937:Diagnosis, Differential; D005334:Fever / Q000175:diagnosis* / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D015336:Molecular Probe Techniques
D005819:Genetic Markers