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Autoinflammatory disease

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https://www.readbyqxmd.com/read/29663815/canakinumab-as-monotherapy-for-treatment-of-familial-mediterranean-fever-first-report-in-central-and-eastern-europe-region
#1
M Jesenak, K Hrubiskova, L Kapustova, M Kostkova, P Banovcin
Autoinflammatory disorders (AID) are characterized by spontaneous attacks of acute inflammation with a broad spectrum of clinical symptoms. Ongoing inflammation and reoccurrence of acute flares can lead to the development of amyloidosis. One group of AID is represented by monogenic periodic fever syndromes while familial Mediterranean fever (FMF) is the most common form of AID from this group. Its prevalence in Central and Eastern Europe was reported to be very low. We report a case of FMF patient with a very severe clinical course of FMF and intolerance to colchicine, which is a gold standard for FMF treatment...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29663156/anakinra-treatment-in-macrophage-activation-syndrome-a-single-center-experience-and-systemic-review-of-literature
#2
Hafize Emine Sönmez, Selcan Demir, Yelda Bilginer, Seza Özen
Our aim was to report our experiences of pediatric macrophage activation syndrome (MAS) patients treated with anakinra and to review previous studies reporting anakinra treatment in pediatric MAS patients associated with systemic juvenile idiopathic arthritis (sJIA) or autoinflammatory diseases (AIDs). The study group consisted of pediatric MAS patients due to sJIA or AIDs, followed up in the Pediatric Rheumatology Unit of Hacettepe University between January 2015 and January 2017 and treated with anakinra (anti-IL1)...
April 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29652766/-chronic-recurrent-multifocal-osteomyelitis-of-the-mandible-a-diagnostic-challenge
#3
Liliana Camison, Rick S Mai, Jesse A Goldstein, Bernard J Costello, Kathryn S Torok, Joseph E Losee
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare autoinflammatory bone disorder of children and adolescents characterized by mono- or multi-focal inflammatory bone lesions that are culture-negative on biopsy, associated with periods of exacerbation and resolution that can last over several months to years. Although it is predominantly a disease of long bones and the spine, craniofacial involvement is not uncommon, affecting the mandible in up to a fifth of cases. Similarities with other etiologies of osteitis in clinical presentation and imaging, as well as the lack of specific symptoms or laboratory tests, make CRMO mainly a diagnosis of exclusion...
March 28, 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29649002/jak1-2-inhibition-with-baricitinib-in-the-treatment-of-autoinflammatory-interferonopathies
#4
Gina A Montealegre Sanchez, Adam Reinhardt, Suzanne Ramsey, Helmut Wittkowski, Philip J Hashkes, Yackov Berkun, Susanne Schalm, Sara Murias, Jason A Dare, Diane Brown, Deborah L Stone, Ling Gao, Thomas Klausmeier, Dirk Foell, Adriana A de Jesus, Dawn C Chapelle, Hanna Kim, Samantha Dill, Robert Colbert, Laura Failla, Bahar Kost, Michelle O'Brien, James C Reynolds, Les R Folio, Katherine R Calvo, Scott M Paul, Nargues Weir, Alessandra Brofferio, Ariane Soldatos, Angélique Biancotto, Edward W Cowen, John G Digiovanna, Massimo Gadina, Andrew J Lipton, Colleen Hadigan, Steven M Holland, Joseph Fontana, Ahmad S Alawad, Rebecca J Brown, Kristina I Rother, Theo Heller, Kristina M Brooks, Parag Kumar, Stephen R Brooks, Meryl Waldman, Harsharan K Singh, Volker Nickeleit, Maria Silk, Apurva Prakash, Jonathan M Janes, Seza Ozen, Paul G Wakim, Paul A Brogan, William L Macias, Raphaela Goldbach-Mansky
BACKGROUND: Monogenic Interferon (IFN)-mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN-response-gene-signature (IRS), inflammatory organ damage and high mortality. We used the janus kinase (JAK) inhibitor baricitinib with IFN-blocking activity in vitro, to ameliorate disease. METHODS: Between October 2011 and February 2017, 10 patients with CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures), 4 with SAVI (Stimulator of IFN genes (STING)-associated vasculopathy with onset in infancy), and 4 patients with other interferonopathies were enrolled in an Expanded Access Program...
April 12, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29622022/il-6-blockade-in-systemic-juvenile-idiopathic-arthritis-achievement-of-inactive-disease-and-remission-data-from-the-german-aid-registry
#5
M Bielak, E Husmann, N Weyandt, J-P Haas, B Hügle, G Horneff, U Neudorf, T Lutz, E Lilienthal, T Kallinich, K Tenbrock, R Berendes, T Niehues, H Wittkowski, E Weißbarth-Riedel, G Heubner, P Oommen, J Klotsche, Dirk Foell, E Lainka
BACKGROUND: Systemic juvenile idiopathic arthritis (sJIA) is a complex disease with an autoinflammatory component of unknown etiology related to the innate immune system. A major role in the pathogenesis has been ascribed to proinflammatory cytokines like interleukin-6 (IL-6), and effective drugs inhibiting their signaling are being developed. This study evaluates sJIA patients treated with the IL-6 inhibitor tocilizumab (TCZ) concerning clinical response rate, disease course and adverse effects in a real-life clinical setting...
April 5, 2018: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29610179/inherited-immunodeficiency-a-new-association-with-early-onset-childhood-panniculitis
#6
Brigitte Bader-Meunier, Frédéric Rieux-Laucat, Fabien Touzot, Marie-Louise Frémond, Isabelle André-Schmutz, Sylvie Fraitag, Christine Bodemer
We report on 4 children who presented with aseptic panniculitis associated with inherited immunodeficiency. Three patients had a B-cell immunodeficiency resulting from mutations in the TRNT1 and NF-κb2 genes (no mutation was found in the third patient), and 1 had a T-cell deficiency (mutation in the LCK gene). Panniculitis occurred before the age of 2 years in the 4 patients and preceded the onset of recurrent infections because of immunodeficiency in 2. It presented either as nodules, which resolved spontaneously within 1 to 2 weeks (3 patients), or chronic ulcerative lesions (1 patient) associated with unexplained fever and elevated acute phase reactants, without evidence of infection or high-titer autoantibodies...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29610014/gain-of-function-mutation-and-inflammasome-driven-diseases-in-human-and-mouse-models
#7
REVIEW
Mario D Cordero, Elísabet Alcocer-Gómez, Bernhard Ryffel
Activation of the NLRP3 inflammasome, a multiprotein complex, leading to caspase activation with production of proinflammatory IL-1β represents a major pathway of inflammation. Recent, studies in mice and human patients uncovered several gain-of- function (GOF) mutations in inflammasome sensor proteins that allow inflammasome assembly in the absence of cognate ligands to trigger autoinflammatory syndromes. Cryopyrin-associated periodic syndromes (CAPS) are rare autoinflammatory diseases, comprising a broad disease spectrum with varying severity...
March 30, 2018: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29599418/new-workflow-for-classification-of-genetic-variants-pathogenicity-applied-to-hereditary-recurrent-fevers-by-the-international-study-group-for-systemic-autoinflammatory-diseases-insaid
#8
Marielle E Van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C Carbo, Mariska Slofstra, Juan I Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyımnı, Banu Balci-Peynircioglu, Hal M Hoffman, Florian Milhavet, Morris A Swertz, Isabelle Touitou
BACKGROUND: Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing. OBJECTIVES: This study aimed to obtain an experts' consensus on the clinical significance of gene variants in four well-known HRF genes: MEFV , TNFRSF1A , NLRP3 and MVK . METHODS: We configured a MOLGENIS web platform to share and analyse pathogenicity classifications of the variants and to manage a consensus-based classification process...
March 29, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29596638/the-multifaceted-presentation-of-chronic-recurrent-multifocal-osteomyelitis-a-series-of-486-cases-from-the-eurofever-international-registry
#9
Hermann Girschick, Martina Finetti, Francesca Orlando, Susanne Schalm, Antonella Insalaco, Gerd Ganser, Susan Nielsen, Troels Herlin, Isabelle Koné-Paut, Silvana Martino, Marco Cattalini, Jordi Anton, Sulaiman Mohammed Al-Mayouf, Michael Hofer, Pierre Quartier, Christina Boros, Jasmin Kuemmerle-Deschner, Denise Pires Marafon, Maria Alessio, Tobias Schwarz, Nicolino Ruperto, Alberto Martini, Annette Jansson, Marco Gattorno
Objectives: Chronic non-bacterial osteomyelitis (CNO) or chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disorder characterized by sterile bone osteolytic lesions. The aim of this study was to evaluate the demographic data and clinical, instrumental and therapeutic features at baseline in a large series of CNO/CRMO patients enrolled in the Eurofever registry. Methods: A web-based registry collected retrospective data on patients affected by CRMO/CNO...
March 27, 2018: Rheumatology
https://www.readbyqxmd.com/read/29589639/oral-manifestations-of-autoinflammatory-and-autoimmune-diseases
#10
Špela Baglama, Katarina Trčko, Janez Rebol, Jovan Miljković
Autoimmune diseases may also be reflected in changes in the oral cavity that represent the first sign of the disease, or they may occur simultaneously with or later in the course of the disease. Oral findings are mostly non-specific, and therefore further investigations are needed to exclude or confirm possible diagnoses. This article presents the most important diseases in this research area, divides them into meaningful groups, and highlights the importance of examining the oral cavity for possible manifestations...
March 2018: Acta Dermatovenerologica Alpina, Panonica, et Adriatica
https://www.readbyqxmd.com/read/29574969/neutrophilic-urticarial-dermatosis-as-a-presenting-feature-of-systemic-juvenile-idiopathic-arthritis
#11
Thomas Stringer, Julia Gittler, Shane Meehan, Philip Kahn, Vikash S Oza
This report describes a case of chronic neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis. When encountered in children, neutrophilic urticarial dermatosis should raise suspicion of autoimmune or autoinflammatory disease.
March 25, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29574415/response-to-a20-haploinsufficiency-ha20-clinical-phenotypes-and-disease-course-of-patients-with-a-newly-recognised-nf-kb-mediated-autoinflammatory-disease-by-aeschlimann-et-al
#12
Florence A Aeschlimann, Ronald M Laxer
No abstract text is available yet for this article.
March 24, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29572183/tnfaip3-haploinsufficiency-is-the-cause-of-autoinflammatory-manifestations-in-a-patient-with-a-deletion-of-13mb-on-chromosome-6
#13
Clara Franco-Jarava, Hongying Wang, Andrea Martin-Nalda, de la Sierra Daniel Alvarez, Marina García-Prat, Domingo Bodet, Vicenç García-Patos, Alberto Plaja, Francesc Rudilla, Victor Rodriguez-Sureda, Laura García-Latorre, Ivona Aksentijevich, Roger Colobran, Pere Soler-Palacín
There is scarce literature about autoinflammation in syndromic patients. We describe a patient who, in addition to psychomotor and growth delay, presented with fevers, neutrophilic dermatosis, and recurrent orogenital ulcers. Comparative Genomic Hybridization (CGH) array permitted to identify a 13.13Mb deletion on chromosome 6, encompassing 53 genes, and including TNFAIP3 gene (A20). A20 is a potent inhibitor of the NF-kB signalling pathway and restricts inflammation via its deubiquitinase activity. Western blotting and immunoprecipitation assays showed decreased A20 expression and increased phosphorylation of p65 and IkBa...
March 20, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29571971/the-unconventional-secretion-of-il-1%C3%AE-handling-a-dangerous-weapon-to-optimize-inflammatory-responses
#14
REVIEW
Roberto Sitia, Anna Rubartelli
Interleukin 1β (IL-1β) is a major mediator of inflammation, with a causative role in many diseases. Unlike most other cytokines, however, it lacks a secretory signal sequence, raising intriguing mechanistic, functional and evolutionary questions. Despite decades of strenuous efforts in many laboratories, how IL-1β is secreted is still a matter of intense debate. Here, we summarize the different mechanisms and pathways that have been proposed for IL-1β secretion. At least two of them, namely the endolysosomal vesicle-based and gasdermin D-dependent pathways (types III and I in the recent Rabouille's classification of unconventional protein secretion), can be triggered in monocytes, the main source of IL-1β in humans, according to the type and strength of the pro-inflammatory stimuli...
March 20, 2018: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/29562920/the-safety-of-live-attenuated-vaccines-in-patients-using-il-1-or-il-6-blockade-an-international-survey
#15
Jerold Jeyaratnam, Nienke M Ter Haar, Helen J Lachmann, Ozgur Kasapcopur, Amanda K Ombrello, Donato Rigante, Fatma Dedeoglu, Ezgi H Baris, Sebastiaan J Vastert, Nico M Wulffraat, Joost Frenkel
BACKGROUND: Withholding live-attenuated vaccines in patients using interleukin (IL)-1 or IL-6 blocking agents is recommended by guidelines for both pediatric and adult rheumatic diseases, since there is a risk of infection in an immune suppressed host. However, this has never been studied. This retrospective, multicenter survey aimed to evaluate the safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade. METHODS: We contacted physicians involved in the treatment of autoinflammatory diseases to investigate potential cases...
March 21, 2018: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29559814/a-rare-cause-of-fever-in-an-adult-a-case-of-familial-mediterranean-fever
#16
Ilknur Erdem, Fatih Saritas, Ritvan Karaali, Enes Ardic, Gaye Kubra Emeksiz, Sonat Pinar Kara, R Merve Yaniker, Oguzhan Bol
Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever attacks and serositis. Nonspecific manifestations of the FMF can mimic many common acquired disorders such as infections and acute abdomen. This can delay recognition for many years and lead to comprehensive assessments and even unnecessary surgeries. Untreated FMF may lead to serious complications such as end-stage renal disease and malabsorption due to amyloid deposits in the kidneys and the digestive system...
2018: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29556237/regulation-of-cytokine-production-by-the-unfolded-protein-response-implications-for-infection-and-autoimmunity
#17
REVIEW
Judith A Smith
Protein folding in the endoplasmic reticulum (ER) is an essential cell function. To safeguard this process in the face of environmental threats and internal stressors, cells mount an evolutionarily conserved response known as the unfolded protein response (UPR). Invading pathogens induce cellular stress that impacts protein folding, thus the UPR is well situated to sense danger and contribute to immune responses. Cytokines (inflammatory cytokines and interferons) critically mediate host defense against pathogens, but when aberrantly produced, may also drive pathologic inflammation...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29538758/using-genes-to-triangulate-the-pathophysiology-of-granulomatous-autoinflammatory-disease-nod2-plcg2-and-lacc1
#18
Ann Marie Szymanski, Michael J Ombrello
The intersection of granulomatosis and autoinflammatory disease is a rare occurrence that can be generally subdivided into purely granulomatous phenotypes and disease spectra that are inclusive of granulomatous features. NOD2 (nucleotide binding oligomerization domain containing 2)-related disease, which includes Blau syndrome and early onset sarcoidosis, is the prototypic example of granulomatous inflammation in the context of monogenic autoinflammation. Granulomatous inflammation has also been observed in two related autoinflammatory diseases caused by mutations in PLCG2 (phospholipase C gamma 2)...
March 12, 2018: International Immunology
https://www.readbyqxmd.com/read/29531021/tranilast-directly-targets-nlrp3-to-treat-inflammasome-driven-diseases
#19
Yi Huang, Hua Jiang, Yun Chen, Xiaqiong Wang, Yanqing Yang, Jinhui Tao, Xianming Deng, Gaolin Liang, Huafeng Zhang, Wei Jiang, Rongbin Zhou
The dysregulation of NLRP3 inflammasome can cause uncontrolled inflammation and drive the development of a wide variety of human diseases, but the medications targeting NLRP3 inflammasome are not available in clinic. Here, we show that tranilast (TR), an old anti-allergic clinical drug, is a direct NLRP3 inhibitor. TR inhibits NLRP3 inflammasome activation in macrophages, but has no effects on AIM2 or NLRC4 inflammasome activation. Mechanismly, TR directly binds to the NACHT domain of NLRP3 and suppresses the assembly of NLRP3 inflammasome by blocking NLRP3 oligomerization...
March 12, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29526930/five-cases-of-familial-mediterranean-fever-in-japan-the-relationship-with-mefv-mutations
#20
Kazuki Kimura, Masafumi Mizooka, Kiyoshi Migita, Ryoko Ishida, Masatoshi Matsumoto, Satoshi Yamasaki, Nobusuke Kishikawa, Akihiro Kawahara, Yuka Kikuchi, Yuichiro Otani, Tomoki Kobayashi, Daisuke Miyamori, Takuya Ikuta, Hiroshi Nakamura, Kenichi Yokobayashi, Shuichi Iwamoto, Keishi Kanno, Hiromasa Ohira, Susumu Tazuma
Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of MEFV detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q (n=1), and heterozygosity for M694I (n=1) and S503C (n=1). Colchicine prevented febrile attacks and accompanying symptoms in four patients...
March 9, 2018: Internal Medicine
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