Autoinflammatory conditions: when to suspect? How to treat?
The term 'autoinflammatory disease' encompasses an enlarging group of inflammatory disorders defined as Mendelian genetic diseases of the innate immune system. This group is growing considering the fact that diseases sharing strong similarities with this core group can be defined as autoinflammatory. The core group consists now of six disorders also known as hereditary recurrent fever syndromes. Thez most common is familial Mediterranean fever, an autosomal recessive disease affecting mainly populations of Mediterranean ancestry. All these six diseases are characterised by inflammatory attacks both at the clinical and at the biological level. The diagnosis of each of these diseases relies first on clinical features and second on genetic testing, which is guided by the clinical results. Deciphering the role of interleukin-1 in the regulation of the inflammatory response through the inflammasome represents a major advance in the knowledge of the mechanisms of these diseases with, as a main consequence, treatment with interleukin-1 inhibitors.
Grateau
Gilles
G
Service de médecine interne, Centre de référence des amyloses d'origine inflammatoire et de la fièvre méditerranéenne familiale, hôpital Tenon, Assistance publique-hôpitaux de Paris, Université Paris 6 Pierre et Marie Curie, 4 rue de la Chine, 75970 Paris cedex 20, France. gilles.grateau@tnn.aphp.fr
Duruöz
Mehmet Tuncay
MT
D000686:Amyloidosis / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D003078:Colchicine / Q000627:therapeutic use; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D020022:Genetic Predisposition to Disease; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007249:Inflammation / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism; D007375:Interleukin-1 / Q000037:antagonists & inhibitors / Q000378:metabolism; D013577:Syndrome
D007375:Interleukin-1; D003078:Colchicine