[Hereditary systemic autoinflammatory diseases. Hereditary periodic fever syndromes].
Systemic autoinflammatory diseases are an heterogeneous group of systemic disorders clinically characterized by recurrent or persistent inflammatory episodes, which occur in the absence of infectious, neoplastic or autoimmune etiology. During the past years, genetic defects affecting different proteins involved in the regulation of inflammatory processes have been identified in these diseases. These advances offer new genetic tools to clinicians, in order to achieve an accurate and definitive diagnostic, and to establish a tailored treatment. Present review is an updated and comprehensive overview on hereditary systemic autoinflammatory diseases, and it has been organized in 2 separate and independent parts. The first of them will introduce the group of hereditary periodic fever syndromes, which includes familial Mediterranean fever, hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), and tumour necrosis factor receptor-associated periodic syndrome (TRAPS).
Unidad de Enfermedades Autoinflamatorias Sistémicas, Servicio de Inmunología, Centro de Diagnóstico Biomédico (CDB), Hospital Clínic, Barcelona, España. jiaroste@clinic.ub.es
Juan I
JI
Aróstegui
Jordi
J
Yagüe
D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D003078:Colchicine / Q000627:therapeutic use; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D015870:Gene Expression / Q000235:genetics; D006074:Gout Suppressants / Q000627:therapeutic use; D006801:Humans; D017354:Point Mutation / Q000235:genetics; D018746:Systemic Inflammatory Response Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*
D000893:Anti-Inflammatory Agents; D006074:Gout Suppressants; D003078:Colchicine