Basic information for clinicians and scientists

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

De Benedetti F, et al. N Engl J Med 2018 - Clinical Trial. Among authors: Gattorno M, Brogan P, Frenkel J. PMID 29768139 Free article.

 

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

Giancane G, et al. Ann Rheum Dis 2015 - Review. Among authors: Gattorno M, Demirkaya E, Brogan P, Frenkel J. PMID 25628446 Free article.

 

A dermatologic perspective on autoinflammatory diseases

Marzano AV, et al. Clin Exp Rheumatol 2018 - Review. Among authors: Gattorno M. PMID 29742056 Free article.

IL-1β is the pivotal cytokine which is responsible for the exaggerated production of cytokines and chemokines that induce the recruitment of neutrophils, key cells in autoinflammation. ...

 

EULAR recommendations for the management of familial Mediterranean fever

Ozen S, et al. Ann Rheum Dis 2016. Among authors: Demirkaya E, Gattorno M, Kastner D. PMID 26802180 Free article.

 

Development of the autoinflammatory disease damage index (ADDI)

Ter Haar NM, et al. Ann Rheum Dis 2017. Among authors: Demirkaya E, Gattorno M, Brogan PA, Goldbach-Mansky R, Frenkel J. PMID 27811147 Free article.

 

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease

Beck DB and Aksentijevich I. Front Immunol 2019 - Review. PMID 30766537 Free PMC article.

Autoinflammation has further been implicated as an important component of cardiovascular, neurodegenerative, and metabolic syndromes. ...We also explore the overlap between autoinflammation, autoimmunity, and immunodeficiency, which has been increasingly recognized in patients with dysregulated immune responses....

 

NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases

Aksentijevich I and Zhou Q. Front Immunol 2017 - Review. PMID 28469620 Free PMC article.

Recently, the scope of autoinflammation has been broadened to include diseases that result from dysregulations in protein modifications by the highly conserved ubiquitin (Ub) peptides. ...The primary aim of this review is to summarize the latest developments in our understanding of the etiology of autoinflammation....

 

2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Ravelli A, et al. Arthritis Rheumatol 2016. Among authors: Demirkaya E. PMID 26314788 Free article.

 

Monogenic autoinflammatory diseases: concept and clinical manifestations

Almeida de Jesus A and Goldbach-Mansky R. Clin Immunol 2013 - Review. PMID 23711932 Free PMC article.

The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency....

 

Lessons from characterization and treatment of the autoinflammatory syndromes

Aksentijevich I and McDermott MF. Curr Opin Rheumatol 2017 - Review. PMID 27906774 Free PMC article.

RECENT FINDINGS: The scope of autoinflammation has been broadened to include defects in deubiquitination and cellular redox homeostasis. ...

 

EULAR/PReS standards and recommendations for the transitional care of young people with juvenile-onset rheumatic diseases

Foster HE, et al. Ann Rheum Dis 2017. Among authors: Demirkaya E. PMID 27802961 Free article.

 

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review

Finetti M, et al. Orphanet J Rare Dis 2016 - Review. Among authors: Gattorno M. PMID 27927236 Free PMC article.

 

New monogenic autoinflammatory diseases--a clinical overview

Canna SW and Goldbach-Mansky R. Semin Immunopathol 2015 - Review. PMID 25963521 Free PMC article.

New genetic discoveries have confirmed unifying mechanisms of autoinflammation, including dysregulation of danger sensing, cell stress, and immune-receptor signaling. ...Second, conditions associated with high IL-18 production may provide a direct link between autoinflammation and macrophage activation syndrome. ...

 

Current State of Precision Medicine in Primary Systemic Vasculitides

Demirkaya E, et al. Front Immunol 2019 - Review. Among authors: Aksentijevich I. PMID 31921111 Free PMC article.

 

When less is more: primary immunodeficiency with an autoinflammatory kick

Giannelou A, et al. Curr Opin Allergy Clin Immunol 2014 - Review. Among authors: Kastner DL. PMID 25337682 Free PMC article.

SUMMARY: These findings underscore the power of next-generation sequencing, demonstrating how the primary deficiency of key molecular regulators or even regulatory motifs may lead to autoinflammation, and suggesting a possible role for cat eye syndrome chromosome region, candidate 1 and phospholipase Cγ₂ in common diseases....

 

Comparison of the efficacy of once- and twice-daily colchicine dosage in pediatric patients with familial Mediterranean fever--a randomized controlled noninferiority trial

Polat A, et al. Arthritis Res Ther 2016 - Clinical Trial. Among authors: Demirkaya E. PMID 27055417 Free PMC article.

 

A Meta-Analysis to Estimate the Placebo Effect in Randomized Controlled Trials in Juvenile Idiopathic Arthritis

Demirkaya E, et al. Arthritis Rheumatol 2016 - Review. PMID 26749157 Free article.

 

Autoinflammation in 2010: expanding clinical spectrum and broadening therapeutic horizons.

Ombrello MJ and Kastner DL. Nat Rev Rheumatol 2011 - Review. PMID 21289614 Free PMC article.

In 2010, important research into the systemic autoinflammatory diseases has confirmed and extended the role of IL-1 inhibition in hereditary autoinflammatory disorders, demonstrated a novel treatment for a dangerous complication, and expanded the spectrum of systemic autoinflammatory diseases while further implicating autoinflammation in the pathophysiology of the metabolic syndrome....

 

Lighting the fires within: the cell biology of autoinflammatory diseases

Park H, et al. Nat Rev Immunol 2012 - Review. Among authors: Kastner DL. PMID 22828911 Free PMC article.

Recent studies have highlighted the role of misfolding, oligomerization and abnormal trafficking of pathogenic mutant proteins in triggering autoinflammation, and suggest that more common rheumatic diseases may have an autoinflammatory component. ...

 

Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis

Henderson C and Goldbach-Mansky R. Curr Opin Rheumatol 2010 - Review. PMID 20671522 Free PMC article.

RECENT FINDINGS: The understanding of the spectrum of organ manifestations in autoinflammation was expanded by the discovery of two novel monogenic diseases both caused by the absence of an anti-inflammatory signal and added evidence that increased IL-1 signaling can cause aseptic osteolytic bone lesions and that the absence of IL-10 signaling causes inflammatory enterocolitis in neonates. ...