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autoinflammatory syndrome

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https://www.readbyqxmd.com/read/29778503/autoinflammatory-mutation-in-nlrc4-reveals-an-lrr-lrr-oligomerization-interface
#1
Fiona Moghaddas, Ping Zeng, Yuxia Zhang, Heike Schützle, Sebastian Brenner, Sigrun R Hofmann, Reinhard Berner, Yuanbo Zhao, Bingtai Lu, Xiaoyun Chen, Li Zhang, Suyun Cheng, Stefan Winkler, Kai Lehmberg, Scott W Canna, Peter E Czabotar, Ian P Wicks, Dominic De Nardo, Christian M Hedrich, Huasong Zeng, Seth L Masters
BACKGROUND: Monogenic autoinflammatory disorders are characterised by dysregulation of the innate immune system, for example by gain-of-function mutations in inflammasome forming proteins such as NLRC4. OBJECTIVE: Here we investigate the mechanism by which a novel mutation in the leucine rich repeat (LRR) domain of NLRC4 (c.G1965C, p.W655C) contributes to autoinflammatory disease. METHODS: We studied two unrelated patients with early onset macrophage activation syndrome (MAS) harboring the same de novo mutation in NLRC4...
May 17, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29773275/periodic-fever-syndromes
#2
REVIEW
Helen J Lachmann
Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or childhood and are characterised by recurrent episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. The best recognised disorders include CAPS, FMF, TRAPS and MKD. Understanding the molecular pathogenesis of these disorders provides unique insights into the regulation of innate immunity. Diagnosis relies on clinical acumen and is supported by genetic testing...
August 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29773270/systemic-juvenile-idiopathic-arthritis-new-insights-into-pathogenesis-and-cytokine-directed-therapies
#3
REVIEW
Manuela Pardeo, Claudia Bracaglia, Fabrizio De Benedetti
Systemic juvenile idiopathic arthritis (sJIA) is considered as a polygenic autoinflammatory disease. The prominent systemic clinical features, the marked elevation of inflammatory markers, and the absence of autoantibodies make this disease very different from the other juvenile idiopathic arthritis (JIA) forms. Innate immune mechanisms appear to play a central role: the overproduction of inflammatory cytokines of innate immunity is a typical feature of sJIA. Increased understanding of the role of these cytokines has been translated into therapeutic approaches...
August 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29768139/canakinumab-for-the-treatment-of-autoinflammatory-recurrent-fever-syndromes
#4
Fabrizio De Benedetti, Marco Gattorno, Jordi Anton, Eldad Ben-Chetrit, Joost Frenkel, Hal M Hoffman, Isabelle Koné-Paut, Helen J Lachmann, Seza Ozen, Anna Simon, Andrew Zeft, Inmaculada Calvo Penades, Michel Moutschen, Pierre Quartier, Ozgur Kasapcopur, Anna Shcherbina, Michael Hofer, Philip J Hashkes, Jeroen Van der Hilst, Ryoki Hara, Segundo Bujan-Rivas, Tamas Constantin, Ahmet Gul, Avi Livneh, Paul Brogan, Marco Cattalini, Laura Obici, Karine Lheritier, Antonio Speziale, Guido Junge
BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks...
May 17, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29766377/resolution-of-femoral-metaphyseal-dysplasia-in-cinca-syndrome-after-long-term-treatment-with-interleukin-1-blockade
#5
REVIEW
Donato Rigante, Raffaele Manna, Elena Verrecchia, Raffaella Marrocco, Antonio Leone
Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare autoinflammatory disorder driven by uncontrolled hypersecretion of interleukin (IL)-1, which can be clinically depicted by striking cutaneous, neurologic, and skeletal features. Little is known about the exact pathogenesis of CINCA bone disease, which mainly involves the knees. We report a 20-year-old CINCA patient, who was consecutively treated firstly with anakinra, started at 7 years, then with full dose canakinumab, started at 17 years, focusing on the typical bone abnormalities of the syndrome: the comparison of radiographs of knees performed at 7 and 20 years has shown the disappearance of a typical metaphyseal dysplasia occurring in the femurs of this CINCA patient, regularly treated with IL-1 blockade for a period of 13 years...
May 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29751004/mutations-affecting-the-actin-regulator-wdr1-lead-to-aberrant-lymphoid-immunity
#6
Laurène Pfajfer, Nina K Mair, Raúl Jiménez-Heredia, Ferah Genel, Nesrin Gulez, Ömür Ardeniz, Birgit Hoeger, Sevgi Köstel Bal, Christoph Madritsch, Artem Kalinichenko, Rico Chandra Ardy, Bengü Gerçeker, Javier Rey-Barroso, Hanna Ijspeert, Stuart G Tangye, Ingrid Simonitsch-Klupp, Johannes B Huppa, Mirjam van der Burg, Loïc Dupré, Kaan Boztug
BACKGROUND: The actin-interacting protein WDR1 promotes cofilin-dependent actin filament turnover. Biallelic WDR1 mutations have recently been identified in an immunodeficiency/autoinflammatory syndrome with aberrant morphology and function of myeloid cells. OBJECTIVE: Given the pleiotropic expression of WDR1, we here investigated to what extent it might control the lymphoid arm of the immune system in humans. METHODS: Histological and detailed immunological analyses were performed to elucidate the role of WDR1 in development and function of B and T lymphocytes...
May 8, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29742059/autoinflammatory-diseases-as-a-cause-of-acute-abdominal-pain-in-the-emergency-department
#7
REVIEW
Giovanni Maconi, Laura Obici, Stefania Carmagnola, Stefano Guzzetti
Autoinflammatory diseases (AIDs) usually present with acute abdominal pain and fever, both of which are also the main causes of referral in the emergency department. As some patients with acute abdominal pain may be discharged from the emergency department without a definitive diagnosis, it is not surprising that, due to their rarity, most cases of AID remain undiagnosed or are misdiagnosed as acute appendicitis. Indeed, the diagnosis of familial Mediterranean fever and autoinflammatory syndromes requires a high index of suspicion and careful assessment of clinical history...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742056/a-dermatologic-perspective-on-autoinflammatory-diseases
#8
REVIEW
Angelo Valerio Marzano, Giovanni Damiani, Giovanni Genovese, Marco Gattorno
Autoinflammatory diseases (AIDs) encompass a heterogeneous group of disorders pathogenetically related to an abnormal activation of the innate immunity and clinically characterised by aseptic inflammation in the affected organs in the absence of high titer of circulating autoantibodies or autoreactive T cells. In classic monogenic AIDs, the skin is frequently involved with a wide range of cutaneous lesions. Monogenic AIDs result from different mutations in a single gene, which regulates the innate immunity...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742055/musculoskeletal-manifestations-in-hereditary-periodic-fever-syndromes
#9
REVIEW
Martina Soliani, Marco Cattalini, Antonio Vitale, Jurgen Sota, Luca Cantarini
Monogenic autoinflammatory diseases (AIDs) are a group of inflammatory disorders induced by deregulation of the innate immune system and characterised by inflammatory bouts with fever as well as a large spectrum of other possible manifestations involving most organs and tissues. In this context, musculoskeletal manifestations represent a frequent finding in the clinical picture of patients with AIDs and may range from less severe affections including myalgia and arthralgia to severe arthritis, muscle fasciitis, bone erosions, and joint deformities...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742053/updated-overview-of-molecular-pathways-involved-in-the-most-common-monogenic-autoinflammatory-diseases
#10
REVIEW
Orso Maria Lucherini, Donato Rigante, Jurgen Sota, Claudia Fabiani, Laura Obici, Marco Cattalini, Marco Gattorno, Luca Cantarini
An apparently unprovoked recurrent inflammation is the quintessential hallmark of autoinflammatory diseases (AIDs), a large and heterogeneous group of disorders in which there is poor regulation of the innate immune system with no clearly demonstrated autoimmune machinery involvement. Innate immunity pathways are diverse and our understanding of their molecular composition and function is continuously expanding. The impaired immune responses we observe in monogenic AIDs, mostly in the hereditary periodic fever syndromes, is officiated by target molecules of microbial origin (pathogen-associated molecular patterns) and also host molecules (danger-associated molecular patterns)...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29731430/pluripotent-stem-cell-model-of-nakajo-nishimura-syndrome-untangles-proinflammatory-pathways-mediated-by-oxidative-stress
#11
Fumiko Honda-Ozaki, Madoka Terashima, Akira Niwa, Norikazu Saiki, Yuri Kawasaki, Haruna Ito, Akitsu Hotta, Ayako Nagahashi, Koichi Igura, Isao Asaka, Hongmei Lisa Li, Masakatsu Yanagimachi, Fukumi Furukawa, Nobuo Kanazawa, Tatsutoshi Nakahata, Megumu K Saito
Nakajo-Nishimura syndrome (NNS) is an immunoproteasome-associated autoinflammatory disorder caused by a mutation of the PSMB8 gene. Although dysfunction of the immunoproteasome causes various cellular stresses attributed to the overproduction of inflammatory cytokines and chemokines in NNS, the underlying mechanisms of the autoinflammation are still largely unknown. To investigate and understand the mechanisms and signal pathways in NNS, we established a panel of isogenic pluripotent stem cell (PSC) lines with PSMB8 mutation...
May 1, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29718184/the-pyrin-inflammasome-from-sensing-rhoa-gtpases-inhibiting-toxins-to-triggering-autoinflammatory-syndromes
#12
Yvan Jamilloux, Flora Magnotti, Alexandre Belot, Thomas Henry
Numerous pathogens including Clostridium difficile and Yersinia pestis have evolved toxins or effectors targeting GTPases from the RhoA subfamily (RhoA/B/C) to inhibit or hijack the host cytoskeleton dynamics. The resulting impairment of RhoA GTPases activity is sensed by the host via an innate immune complex termed the pyrin inflammasome in which caspase-1 is activated. The cascade leading to activation of the pyrin inflammasome has been recently uncovered. In this review, following a brief presentation of RhoA GTPases-modulating toxins, we present the pyrin inflammasome and its regulatory mechanisms...
April 1, 2018: Pathogens and Disease
https://www.readbyqxmd.com/read/29697820/introduction-autoinflammatory-syndromes-special-issue-hidden-mysteries-in-the-corners-of-autoinflammation
#13
Scott W Canna, Raphaela Goldbach-Mansky
No abstract text is available yet for this article.
April 25, 2018: International Immunology
https://www.readbyqxmd.com/read/29694889/pro-inflammation-associated-with-a-gain-of-function-mutation-r284s-in-the-innate-immune-sensor-sting
#14
Hiroyasu Konno, Ivan K Chinn, Diana Hong, Jordan S Orange, James R Lupski, Alejandra Mendoza, Luis A Pedroza, Glen N Barber
The cellular sensor stimulator of interferon genes (STING) initiates type I interferon (IFN) and cytokine production following association with cyclic dinucleotides (CDNs) generated from intracellular bacteria or via a cellular synthase, cGAS, after binding microbial or self-DNA. Although essential for protecting the host against infection, unscheduled STING signaling is now known to be responsible for a variety of autoinflammatory disorders. Here, we report a gain-of-function mutation in STING (R284S), isolated from a patient who did not require CDNs to augment activity and who manifested a constitutively active phenotype...
April 24, 2018: Cell Reports
https://www.readbyqxmd.com/read/29682404/possible-association-of-multicentric-castleman-s-disease-with-autoimmune-lymphoproliferative-syndrome
#15
REVIEW
Hiroyuki Minemura, Yoshinori Tanino, Kazuhiko Ikeda
Multicentric Castleman's disease (MCD) is lymphoproliferative disorder characterized by systemic inflammatory symptoms such as fever and weight loss. Human herpes virus-8 (HHV-8) is thought to be a causable pathogen in all HIV-positive and some HIV-negative MCD patients. Furthermore, the term idiopathic MCD (iMCD) was recently proposed to represent a group of HIV-negative and HHV-8-negative patients with unknown etiologies. Although the international diagnostic criteria for iMCD require exclusion of infection-related disorders, autoimmune/autoinflammatory diseases and malignant/lymphoproliferative disorders to make an iMCD diagnosis, the relationships and differences between these disorders and MCD have not yet been clarified...
2018: BioResearch Open Access
https://www.readbyqxmd.com/read/29663815/canakinumab-as-monotherapy-for-treatment-of-familial-mediterranean-fever-first-report-in-central-and-eastern-europe-region
#16
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
#17
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/29610014/gain-of-function-mutation-and-inflammasome-driven-diseases-in-human-and-mouse-models
#18
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/29600537/hyper-immunoglobulin-d-syndrome-with-novel-mutations-in-an-afebrile-infant
#19
Simi D Cadmus, Reid Green, Ruy Carrasco, Moise L Levy, Lucia Z Diaz
Hyper-immunoglobulin D syndrome is a rare autosomal-recessive autoinflammatory syndrome in which a mevalonate kinase deficiency results due to mutations of the mevalonate kinase gene. We report a case of an Asian male infant who was found to have hyper-immunoglobulin D syndrome in the absence of fever. His skin manifestations included cephalic pustulosis as well recurrent transient and fixed pink plaques and nodules on the face and extremities. Subsequent examination revealed hyper-immunoglobulin D syndrome with two novel allelic mutations in the mevalonate kinase gene: c...
March 30, 2018: Pediatric Dermatology
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
#20
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
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