scholarly journals Autoinflammatory diseases

2020 ◽  
Vol 29 (4) ◽  
pp. 49-60
Author(s):  
V.V. Rameev ◽  
L.V. Lysenko (Kozlovskaya) ◽  
M.V. Bogdanova ◽  
S.V. Moiseev
Keyword(s):  
Immune System ◽  
Familial Mediterranean Fever ◽  
Cellular Immunity ◽  
Innate Immune System ◽  
Clinical Manifestations ◽  
Innate Immune ◽  
Autoinflammatory Diseases ◽  
Periodic Syndrome ◽  
Current Classification ◽  
Mediterranean Fever

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.

scholarly journals Rapid Diagnosis of Meningococcal Meningitis in a Patient With Familial Mediterranean Fever by the FilmArray Meningitis/Encephalitis Panel: A Case Report

2020 ◽  
Vol 10 (4) ◽  
pp. 297-300
Author(s):  
Jyoti V. Ankam ◽  
Sarah Torres ◽  
Tanya A. Halse ◽  
Stephen M. Canfield ◽  
Neville D. Clynes ◽  
...  
Keyword(s):  
Case Report ◽  
Immune System ◽  
Familial Mediterranean Fever ◽  
Innate Immune System ◽  
Meningococcal Meningitis ◽  
Innate Immune ◽  
Invasive Infection ◽  
Early Presentation ◽  
First Case ◽  
Mediterranean Fever

Familial Mediterranean fever (FMF) is a rare autoinflammatory disorder of the innate immune system. Patients with innate immune system defects are at a high risk of meningococcal disease, although it is unclear if patients with FMF also have increased susceptibility to invasive infection. Herein, we present a diagnostically challenging case of a male adolescent with a past medical history of FMF stabilized on colchicine who presented with some of the early clinical features of community—acquired bacterial meningitis. To our knowledge, this is the first case of meningococcal meningitis in a patient with FMF diagnosed with the FilmArray Meningitis/Encephalitis (ME) Panel. This case report demonstrates that rapid detection of Neisseria meningitidis by the ME Panel can aid in the early diagnosis and prompt treatment of patients with suspected meningitis and may be the only positive test in patients with early presentation and/or prior antimicrobial therapy.

scholarly journals Untangling the Web of Systemic Autoinflammatory Diseases

2014 ◽  
Vol 2014 ◽  
pp. 1-15 ◽  
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.

scholarly journals Kidney Disease and Gout: The Role of the Innate Immune System

2016 ◽  
Vol 9 (1) ◽  
pp. 12-21 ◽  
Author(s):  
William F. Finn
Keyword(s):  
Immune System ◽  
Kidney Disease ◽  
Innate Immune System ◽  
Close Association ◽  
Clinical Manifestations ◽  
Innate Immune ◽  
Tubular Injury ◽  
Renal Tubular ◽  
Stimulation Of

The clinical manifestations and consequence of acute and chronic gout are closely associated with the activation of the innate immune system, stimulation of the NLP3 inflammasome and secretion of interleukin-1β and interleukin-18 via caspace-1 activity. This leads to cytokine release and an inflammatory response. It is now clear that a similar involvement of the innate immune system occurs in many forms of acute and chronic kidney disease with accentuation of renal tubular injury and stimulation of tubulointerstitial fibrosis. The local and systemic activation of the innate immune system may help explain the close association of these conditions and provide a target for therapeutic interdiction.

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

2018 ◽  
Vol 77 (11) ◽  
pp. 1558-1565 ◽  
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.

scholarly journals Prevalence of Allergic Diseases in Patients with Common Autoinflammatory Diseases

2021 ◽  
Vol 19 (1) ◽  
pp. 32-37
Author(s):  
Tuba Erdoğan ◽  
Nazife Şule yaşar Bilge ◽  
Timuçin Kaşifoğlu
Keyword(s):  
Allergic Rhinitis ◽  
Familial Mediterranean Fever ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Allergic Diseases ◽  
Innate Immune ◽  
Autoinflammatory Diseases ◽  
Behcet's Disease ◽  
Mediterranean Fever

ABSTRACT Objective: Autoinflammatory diseases are driven by abnormal activation of the innate immune system. Although allergic diseases are known to be mediated by the T helper 2 response, new mechanisms are put forward about the activation of innate immunity during exposure to allergens in recent years. Familial Mediterranean fever (FMF) and Behçet’s disease (BD) are the commonly seen autoinflammatory diseases in Turkey. It was aimed to determine the prevalence of allergic diseases in BD and FMF and contribute to explaining the relationship between autoinflammation and allergic diseases in this survey. Materials and Methods: The study included 42 patients with BD, 40 with FMF, 20 with other rheumatic diseases, and 20 healthy controls who had volunteered for allergic evaluation. Patients were questioned about allergic diseases such as asthma, allergic rhinitis, atopic dermatitis, venom allergy, and food-drug allergy. The same prick test panel was used for all patients to investigate the presence of atopy. Results: Although the rate of allergic diseases and the blood eosinophil rate were significantly higher in patients with FMF and Behçet’s disease, which are commonly seen as autoinflammatory diseases, atopy rates were similar in all groups. The prevalence of allergic rhinitis and any allergic diseases was significantly higher in the FMF and BD groups (p: 0.03 and p: 0.02, respectively). In the multiple logistic regression model of the presence of any allergic disease, none of the factors was associated with allergic diseases. Conclusion: The prevalence of allergic diseases in patients with FMF and BD was found to be higher than in those with other rheumatic diseases and the control group but atopy rates were similar in all groups. The autoinflammatory diseases are not protective in terms of allergic sensitization and allergic rhinitis. This may be the result of recent advances in the innate immune sensing system. Keywords: Allergic diseases, autoinflammatory diseases, familial Mediterranean fever, Behçet’s disease, atopy

scholarly journals Hereditary systemic autoinflammatory diseases and Schnitzler’s syndrome

Rheumatology ◽  
2019 ◽  
Vol 58 (Supplement_6) ◽  
pp. vi31-vi43 ◽  
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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