The Systemic Autoinflammatory Diseases: Inborn Errors of the Innate Immune System

Autoinflammatory diseases are a group of disorders caused by a dysregulation of the innate immune system. Unlike autoimmune diseases, they are not associated with changes in humoral or cellular immunity. The authors review the current classification, clinical manifestations and treatment of various systemic autoinflammatory diseases, including cryopirinassociated periodic syndrome, familial Mediterranean fever, HIDS, and TRAPS.

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Untangling the Web of Systemic Autoinflammatory Diseases

Mediators of Inflammation ◽

10.1155/2014/948154 ◽

2014 ◽

Vol 2014 ◽

pp. 1-15 ◽

Cited By ~ 20

Author(s):

Donato Rigante ◽

Giuseppe Lopalco ◽

Antonio Vitale ◽

Orso Maria Lucherini ◽

Francesco Caso ◽

...

Keyword(s):

Innate Immunity ◽

Immune System ◽

Proinflammatory Cytokines ◽

Innate Immune System ◽

Tumor Necrosis ◽

Interleukin 1 ◽

Innate Immune ◽

Autoinflammatory Diseases ◽

Necrosis Factor ◽

The Web

The innate immune system is involved in the pathophysiology of systemic autoinflammatory diseases (SAIDs), an enlarging group of disorders caused by dysregulated production of proinflammatory cytokines, such as interleukin-1βand tumor necrosis factor-α, in which autoreactive T-lymphocytes and autoantibodies are indeed absent. A widely deranged innate immunity leads to overactivity of proinflammatory cytokines and subsequent multisite inflammatory symptoms depicting various conditions, such as hereditary periodic fevers, granulomatous disorders, and pyogenic diseases, collectively described in this review. Further research should enhance our understanding of the genetics behind SAIDs, unearth triggers of inflammatory attacks, and result in improvement for their diagnosis and treatment.

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Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2017-212515 ◽

2018 ◽

Vol 77 (11) ◽

pp. 1558-1565 ◽

Cited By ~ 32

Author(s):

Eldad Ben-Chetrit ◽

Marco Gattorno ◽

Ahmet Gul ◽

Daniel L Kastner ◽

Helen J Lachmann ◽

...

Keyword(s):

Immune System ◽

Delphi Study ◽

Innate Immune System ◽

Adaptive Immune System ◽

Innate Immune ◽

Autoinflammatory Diseases ◽

Acute Phase Reactants ◽

Autoantibody Production ◽

Clinical Disorders ◽

Definition Of

Autoinflammatory diseases (AIDs) are a relatively new family of disorders, defined about 19 years ago. Some of them are hereditary and some are not. The names given to these diseases do not follow any systematic guidelines, and sometimes the same disorder carries several names. The aim of this study is to refine the definition of AIDs and to provide some conventions for their naming. We focused mainly on monogenetic AIDs. Delphi technique, which enables consensus among a group of experts through internet and mail communication and questionnaires, was employed. After achieving 100% consensus among six members of a steering committee, the questionnaire containing AID definitions and the agreed-upon conventions were sent to 26 physicians and researchers working in the field of AIDs in order to gain broader support for the committee’s proposals. The committee proposed the following definition for AIDs: “Autoinflammatory diseases are clinical disorders caused by defect(s) or dysregulation of the innate immune system, characterized by recurrent or continuous inflammation (elevated acute phase reactants-APR) and the lack of a primary pathogenic role for the adaptive immune system (autoreactive T-cells or autoantibody production).” Several rules were defined for guiding the naming of these diseases among which are: abandoning eponyms and preferring the name of the gene over its encoded protein. The new definition for AIDs allows inclusion of clinical disorders mainly associated with defects in the innate immune system. The new conventions propose names with clinical meaning and in some cases even clues for treatment.

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Hereditary systemic autoinflammatory diseases and Schnitzler’s syndrome

Rheumatology ◽

10.1093/rheumatology/kez448 ◽

2019 ◽

Vol 58 (Supplement_6) ◽

pp. vi31-vi43 ◽

Cited By ~ 3

Author(s):

Mark Kacar ◽

Shelly Pathak ◽

Sinisa Savic

Keyword(s):

Immune System ◽

Innate Immune System ◽

Genetic Basis ◽

Innate Immune ◽

Autoinflammatory Diseases ◽

Phenotypic Characterization ◽

Mevalonate Kinase Deficiency ◽

Monogenic Disorders ◽

Fever Syndromes ◽

Schnitzler’S Syndrome

Abstract The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase deficiency, were the first group of systemic autoinflammatory diseases for which a genetic basis was established, between 1999 and 2001. Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were classified as autoinflammatory. In addition to the abovementioned monogenic conditions, we describe Schnitzler’s syndrome, a well-defined, acquired autoinflammatory condition without a clear genetic basis. For the purposes of this review, we discuss several conditions defined by the latest consensus process as systemic autoinflammatory diseases. We focus on those disorders where recent studies have contributed to further phenotypic characterization or had an impact on clinical management.

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