[Hereditary recurrent fever syndromes].
Four diseases presenting mainly as intermittent bouts of inflammatory symptoms have been clinically and genetically characterized. At the head of this group is familial Mediterranean fever, which affects thousands of patients of Mediterranean ancestry. The other three entities are the tumor necrosis factor receptor superfamily 1A-associated periodic fever syndrome (TRAPS) with a dominant mode of inheritance; hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); and the most recently recognized entity, which includes Muckle Wells syndrome, familial cold urticaria, and the chronic infantile neurological cutaneous and articular (CINCA) syndrome. Proper diagnosis of these entities is needed to begin specific clinical and therapeutic management.
Grateau
Gilles
G
Médecine Interne, Hôpital Tenon, 4, rue de la Chine, 75970 PARIS Cedex 20.
D001168:Arthritis / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D002493:Central Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D003872:Dermatitis / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D007072:Immunoglobulin D / Q000097:blood; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics; D013577:Syndrome
D007072:Immunoglobulin D; D018124:Receptors, Tumor Necrosis Factor