Isabelle Koné-Paut
BD is a systemic inflammatory disease with a variable vasculitis. Paediatric onset is very rare and carries a strong genetic component. Oral ulcers and fever of unknown origin are frequent at onset and difficult to distinguish from other inflammatory disorders; therefore, expert opinion is still mandatory to recognize the disease early. An international expert consensus has recently proposed new classification criteria for children with BD. The clinical spectrum of BD is heterogeneous and influenced by gender, ethnicity and country of residence...
February 18, 2016: Pediatric Rheumatology Online Journal
Shankar Baskar, Allan L Klein, Andrew Zeft
Recurrent pericarditis is a complication of acute pericarditis in 20-30% of the patients and is usually idiopathic in nature. The underlying pathogenesis of this condition remains unclear, although immune-mediated mechanisms seem likely. A subgroup of these patients with refractory symptoms can be challenging to manage, and multiple immunosuppressive medications have been used without consistent benefit. Anakinra, an interleukin-1 receptor antagonist, has been used in treatment of rheumatoid arthritis and autoinflammatory syndromes...
2016: Cardiology Research and Practice
Christian M Hedrich
Historically, autoimmune-inflammatory disorders were subdivided into autoinflammatory vs. autoimmune diseases. About a decade ago, an immunological continuum was proposed, placing "classical" autoinflammatory disorders, characterized by systemic inflammation in the absence of high-titer autoantibodies or autoreactive T lymphocytes, at the one end, and autoimmune disorders at the other end. We provide an overview of recent developments and observations, filling in some of the gaps and showing strong interconnections between innate and adaptive immune mechanisms, indicating that disorders from both ends of the immunological spectrum indeed share key pathomechanisms...
April 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Katerina Theodoropoulou, Federica Vanoni, Michaël Hofer
PFAPA syndrome represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high fever, pharyngitis, cervical adenitis, and aphthous stomatitis. Many possible causative factors have been explored so far, including infectious agents, immunologic mechanisms and genetic predisposition, but the exact etiology remains unclear. Recent findings demonstrate a dysregulation of different components of innate immunity during PFAPA flares, such as monocytes, neutrophils, complement, and pro-inflammatory cytokines, especially IL-1β, suggesting an inflammasome-mediated innate immune system activation and supporting the hypothesis of an autoinflammatory disease...
April 2016: Current Rheumatology Reports
Ezgi D Batu, Fehime Kara Eroğlu, Paul Tsoukas, Jonathan S Hausmann, Yelda Bilginer, Margaret A Kenna, Greg R Licameli, Robert C Fuhlbrigge, Seza Özen, Fatma Dedeoğlu
OBJECTIVE: Periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) syndrome is a periodic fever syndrome of childhood with an unknown etiology. Our aim was to compare the features between PFAPA syndrome patients from Turkey and those from the US, and patients with and without MEFV variants, and to test the performance of the Eurofever criteria in excluding other autoinflammatory disorders. METHODS: Seventy-one children with PFAPA syndrome, followed in Hacettepe University, in Ankara, Turkey, and 60 patients at Boston Children's Hospital in the US were enrolled...
December 2016: Arthritis Care & Research
Nienke M ter Haar, Marlen Oswald, Jerold Jeyaratnam, Jordi Anton, Karyl S Barron, Paul A Brogan, Luca Cantarini, Caroline Galeotti, Gilles Grateau, Veronique Hentgen, Michael Hofer, Tilmann Kallinich, Isabelle Kone-Paut, Helen J Lachmann, Huri Ozdogan, Seza Ozen, Ricardo Russo, Anna Simon, Yosef Uziel, Carine Wouters, Brian M Feldman, Sebastiaan J Vastert, Nico M Wulffraat, Susanne M Benseler, Joost Frenkel, Marco Gattorno, Jasmin B Kuemmerle-Deschner
: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate regimens for the management of children and young adults with rheumatic diseases, facilitating the clinical practice of paediatricians and (paediatric) rheumatologists...
September 2015: Annals of the Rheumatic Diseases
Seza Ozen, Erkan Demirkaya, Gayane Amaryan, Isabelle Koné-Paut, Adem Polat, Pat Woo, Yosef Uziel, Consuelo Modesto, Martina Finetti, Pierre Quartier, Efimia Papadopoulou-Alataki, Sulaiman M Al-Mayouf, Giovanna Fabio, Romina Gallizzi, Luca Cantarini, Joost Frenkel, Susan Nielsen, Michael Hofer, Antonella Insalaco, C Acikel, Huri Ozdogan, Alberto Martini, Nicolino Ruperto, Marco Gattorno
BACKGROUND AND AIM: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations of the MEFV gene. We analyse the impact of ethnic, environmental and genetic factors on the severity of disease presentation in a large international registry. METHODS: Demographic, genetic and clinical data from validated paediatric FMF patients enrolled in the Eurofever registry were analysed. Three subgroups were considered: (i) patients living in the eastern Mediterranean countries; (ii) patients with an eastern Mediterranean ancestry living in western Europe; (iii) Caucasian patients living in western European countries...
April 2014: Annals of the Rheumatic Diseases
Rebecca C Coll, Avril A B Robertson, Jae Jin Chae, Sarah C Higgins, Raúl Muñoz-Planillo, Marco C Inserra, Irina Vetter, Lara S Dungan, Brian G Monks, Andrea Stutz, Daniel E Croker, Mark S Butler, Moritz Haneklaus, Caroline E Sutton, Gabriel Núñez, Eicke Latz, Daniel L Kastner, Kingston H G Mills, Seth L Masters, Kate Schroder, Matthew A Cooper, Luke A J O'Neill
The NOD-like receptor (NLR) family, pyrin domain-containing protein 3 (NLRP3) inflammasome is a component of the inflammatory process, and its aberrant activation is pathogenic in inherited disorders such as cryopyrin-associated periodic syndrome (CAPS) and complex diseases such as multiple sclerosis, type 2 diabetes, Alzheimer's disease and atherosclerosis. We describe the development of MCC950, a potent, selective, small-molecule inhibitor of NLRP3. MCC950 blocked canonical and noncanonical NLRP3 activation at nanomolar concentrations...
March 2015: Nature Medicine
Luca Cantarini, Antonio Vitale, Giulia Bersani, Laura Martin Nieves, Marco Cattalini, Giuseppe Lopalco, Francesco Caso, Luisa Costa, Florenzo Iannone, Giovanni Lapadula, Mauro Galeazzi, Angela Ceribelli, Enrico Brunetta, Carlo Selmi, Donato Rigante
The pediatric syndrome characterized by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) and adult Behçet's disease share some clinical manifestations and are both polygenic autoinflammatory disorders with interleukin-1β showing to play a pivotal role. However, the diagnosis is mostly clinical and we hypothesize that specific criteria may be addressed differently by different physicians. To determine the diagnostic variability, we compared the answers of 80 patients with a definite diagnosis of Behçet's disease (age 42...
February 2016: Clinical Rheumatology
Maryam Piram, Isabelle Koné-Paut, Helen J Lachmann, Joost Frenkel, Seza Ozen, Jasmin Kuemmerle-Deschner, Silvia Stojanov, Anna Simon, Martina Finetti, Maria Pia Sormani, Alberto Martini, Marco Gattorno, Nicolino Ruperto
OBJECTIVES: To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndromes (CAPS). METHODS: In 2010, an international collaboration established the content of a disease activity tool for HRFs. Patients completed a 1-month prospective diary with 12 yes/no items before a clinical appointment during which their physician assessed their disease activity by a questionnaire...
December 2014: Annals of the Rheumatic Diseases
George Lazaros, Panagiotis Vasileiou, Christos Koutsianas, Katerina Antonatou, Christodoulos Stefanadis, Dimitrios Pectasides, Dimitrios Vassilopoulos
No abstract text is available yet for this article.
December 2014: Annals of the Rheumatic Diseases
Tellen D Bennett, Mark Fluchel, Aimee O Hersh, Kristen N Hayward, Adam L Hersh, Thomas V Brogan, Rajendu Srivastava, Bryan L Stone, E Kent Korgenski, Michael B Mundorff, T Charles Casper, Susan L Bratton
OBJECTIVE: To describe patient demographics, interventions, and outcomes in hospitalized children with macrophage activation syndrome (MAS) complicating systemic lupus erythematosus (SLE) or juvenile idiopathic arthritis (JIA). METHODS: We performed a retrospective cohort study using data recorded in the Pediatric Health Information System (PHIS) database from October 1, 2006 to September 30, 2010. Participants had International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis codes for MAS and either SLE or JIA...
December 2012: Arthritis and Rheumatism
John R Lukens, Prajwal Gurung, Peter Vogel, Gordon R Johnson, Robert A Carter, Daniel J McGoldrick, Srinivasa Rao Bandi, Christopher R Calabrese, Lieselotte Vande Walle, Mohamed Lamkanfi, Thirumala-Devi Kanneganti
The incidences of chronic inflammatory disorders have increased considerably over the past three decades. Recent shifts in dietary consumption may have contributed importantly to this surge, but how dietary consumption modulates inflammatory disease is poorly defined. Pstpip2(cmo) mice, which express a homozygous Leu98Pro missense mutation in the Pombe Cdc15 homology family protein PSTPIP2 (proline-serine-threonine phosphatase interacting protein 2), spontaneously develop osteomyelitis that resembles chronic recurrent multifocal osteomyelitis in humans...
December 11, 2014: Nature
Fabio Martinon, Ivona Aksentijevich
Systemic autoinflammatory diseases are caused by abnormal activation of the cells that mediate innate immunity. In the past two decades, single-gene defects in different pathways, driving clinically distinct autoinflammatory syndromes, have been identified. Studies of these aberrant pathways have substantially advanced understanding of the cellular mechanisms that contribute to mounting effective and balanced innate immune responses. For example, mutations affecting the function of cytosolic immune sensors known as inflammasomes and the IL-1 signalling pathway can trigger excessive inflammation...
January 2015: Nature Reviews. Rheumatology
Nicholas J Bernard
No abstract text is available yet for this article.
November 2014: Nature Reviews. Rheumatology
Neil Romberg, Khatoun Al Moussawi, Carol Nelson-Williams, Amy L Stiegler, Erin Loring, Murim Choi, John Overton, Eric Meffre, Mustafa K Khokha, Anita J Huttner, Brian West, Nikolai A Podoltsev, Titus J Boggon, Barbara I Kazmierczak, Richard P Lifton
Upon detection of pathogen-associated molecular patterns, innate immune receptors initiate inflammatory responses. These receptors include cytoplasmic NOD-like receptors (NLRs) whose stimulation recruits and proteolytically activates caspase-1 within the inflammasome, a multiprotein complex. Caspase-1 mediates the production of interleukin-1 family cytokines (IL1FCs), leading to fever and inflammatory cell death (pyroptosis). Mutations that constitutively activate these pathways underlie several autoinflammatory diseases with diverse clinical features...
October 2014: Nature Genetics
Salma M Wakil, Dorota M Monies, Mohamed Abouelhoda, Nada Al-Tassan, Haya Al-Dusery, Ewa A Naim, Banan Al-Younes, Jameela Shinwari, Futwan A Al-Mohanna, Brian F Meyer, Sulaiman Al-Mayouf
OBJECTIVE: The pathologic basis of systemic juvenile idiopathic arthritis (JIA) is a subject of some controversy, with evidence for both autoimmune and autoinflammatory etiologies. Several monogenic autoinflammatory disorders have been described, but thus far, systemic JIA has only been attributed to a mutation of MEFV in rare cases and has been weakly associated with the HLA class II locus. This study was undertaken to identify the cause of an autosomal-recessive form of systemic JIA...
January 2015: Arthritis & Rheumatology
Scott W Canna, Adriana A de Jesus, Sushanth Gouni, Stephen R Brooks, Bernadette Marrero, Yin Liu, Michael A DiMattia, Kristien J M Zaal, Gina A Montealegre Sanchez, Hanna Kim, Dawn Chapelle, Nicole Plass, Yan Huang, Alejandro V Villarino, Angelique Biancotto, Thomas A Fleisher, Joseph A Duncan, John J O'Shea, Susanne Benseler, Alexei Grom, Zuoming Deng, Ronald M Laxer, Raphaela Goldbach-Mansky
Inflammasomes are innate immune sensors that respond to pathogen- and damage-associated signals with caspase-1 activation, interleukin (IL)-1β and IL-18 secretion, and macrophage pyroptosis. The discovery that dominant gain-of-function mutations in NLRP3 cause the cryopyrin-associated periodic syndromes (CAPS) and trigger spontaneous inflammasome activation and IL-1β oversecretion led to successful treatment with IL-1-blocking agents. Herein we report a de novo missense mutation (c.1009A > T, encoding p...
October 2014: Nature Genetics
Y Liu, A A Jesus, B Marrero, D Yang, S E Ramsey, G A Montealegre Sanchez, K Tenbrock, H Wittkowski, O Y Jones, H S Kuehn, C-C R Lee, M A DiMattia, E W Cowen, B Gonzalez, I Palmer, J J DiGiovanna, A Biancotto, H Kim, W L Tsai, A M Trier, Y Huang, D L Stone, S Hill, H J Kim, C St Hilaire, S Gurprasad, N Plass, D Chapelle, I Horkayne-Szakaly, D Foell, A Barysenka, F Candotti, S M Holland, J D Hughes, H Mehmet, A C Issekutz, M Raffeld, J McElwee, J R Fontana, C P Minniti, S Moir, D L Kastner, M Gadina, A C Steven, P T Wingfield, S R Brooks, S D Rosenzweig, T A Fleisher, Z Deng, M Boehm, A S Paller, R Goldbach-Mansky
BACKGROUND: The study of autoinflammatory diseases has uncovered mechanisms underlying cytokine dysregulation and inflammation. METHODS: We analyzed the DNA of an index patient with early-onset systemic inflammation, cutaneous vasculopathy, and pulmonary inflammation. We sequenced a candidate gene, TMEM173, encoding the stimulator of interferon genes (STING), in this patient and in five unrelated children with similar clinical phenotypes. Four children were evaluated clinically and immunologically...
August 7, 2014: New England Journal of Medicine
Donato Rigante, Giuseppe Lopalco, Antonio Vitale, Orso Maria Lucherini, Francesco Caso, Caterina De Clemente, Francesco Molinaro, Mario Messina, Luisa Costa, Mariangela Atteno, Franco Laghi-Pasini, Giovanni Lapadula, Mauro Galeazzi, Florenzo Iannone, Luca Cantarini
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-1β and 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...
2014: Mediators of Inflammation
2014-08-20 16:10:05
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