Autoinflammatory conditions: When to suspect? How to treat?

Grateau G.; Duruöz M.T.

Autoinflammatory conditions: When to suspect? How to treat?

Date

2010

Authors

Grateau G.

Duruöz M.T.

Abstract

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. © 2009 Elsevier Ltd. All rights reserved.

Keywords

Amyloidosis, Autoimmune Diseases, Colchicine, Familial Mediterranean Fever, Genetic Predisposition to Disease, Hereditary Autoinflammatory Diseases, Humans, Inflammation, Interleukin-1, Syndrome, canakinumab, colchicine, cytokine receptor antagonist, etanercept, infliximab, methylprednisolone, recombinant interleukin 1 receptor blocking agent, rilonacept, thalidomide, interleukin 1, anaphylactoid purpura, autoinflammatory disease, autosomal dominant disorder, autosomal recessive disorder, CINCA syndrome, clinical assessment, clinical feature, clinical trial, cryopyrinopathy, drug dose increase, familial cold autoinflammatory syndrome, familial Mediterranean fever, genetic disorder, genetics, human, injection site reaction, innate immunity, lymphadenopathy, mevalonate kinase deficiency, mevalonic aciduria, Muckle Wells syndrome, PAPA syndrome, pneumonia, polyarteritis nodosa, population, priority journal, proteinuria, recurrent fever, regulatory mechanism, review, single drug dose, tumor necrosis factor receptor associated periodic syndrome, amyloidosis, autoimmune disease, drug antagonism, familial Mediterranean fever, genetic predisposition, hereditary periodic fever, inflammation, metabolism, syndrome