Hereditary recurrent fever syndromes (HRF). A subgroup of autoinflammatory diseases (AID)

Hereditary recurrent fever (HRF) syndromes are autoinflammatory diseases (AID) characterized by recurrent, self-limiting and systemic inflammation and are accompanied by a dysregulation of innate immunity. The federally funded clinical and research consortium AID-Net recruits clinical data of patients with HRF syndromes in an online registry (http://www.aid-register.uk-essen.de) and analyzes blood samples for genetic and biomarkers testing. A total of 202 patients have been recorded in the AID registry: Familial Mediterranean fever (FMF, n=177), TNF receptor 1-associated periodic syndrome (TRAPS, n=17), cryopyrin-associated periodic syndrome (CAPS, n=6) and hyperimmunoglobulinemia D and periodic fever syndrome (HIDS, n=2). Attacks of recurrent fever with multiple systemic involvement (e.g. skin, joints and abdomen) were common for all HRFs. Ethnic origin, increased inflammation parameters and disease-associated mutations were important for diagnosis. A widespread lack of knowledge on HRFs and lacking functional laboratory tests led to a delay in correct diagnosis of between 2.5 and 9 years. Rare forms of HRF are largely unknown in spite of typical symptoms. The national and international cooperation AID-Net combines basic and clinical research on epidemiology, clinical and immunological features as well as molecular genetics and identification of new diseases.