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Autoinflammatory disorder

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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/29773081/long-term-familial-mediterranean-fever-remission-on-successful-hepatitis-c-virus-treatment-in-a-patient-not-responding-to-colchicine-a-case-report
#3
Manik Gemilyan, Gagik Hakobyan, Susanna Ananyan
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disorder characterized by periodic febrile attacks of aseptic serositis and/or arthritis. The main treatment is colchicine which prevents attacks in the majority of patients except for a group of colchicine-resistant cases. Chronic hepatitis C is a viral infection causing chronic inflammation of liver tissue (hepatitis) which ultimately progresses to fibrosis and liver cirrhosis with a high chance of hepatocellular carcinoma...
May 18, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29766377/resolution-of-femoral-metaphyseal-dysplasia-in-cinca-syndrome-after-long-term-treatment-with-interleukin-1-blockade
#4
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/29742060/renal-involvement-in-autoinflammatory-diseases-and-inflammasome-mediated-chronic-kidney-damage
#5
REVIEW
Roberto Scarpioni, Laura Obici
Unprovoked activation of innate immune pathways and increased secretion of interleukin (IL)-1β and IL-18 are responsible for the protean clinical manifestations and the marked inflammatory response that characterise most hereditary autoinflammatory disorders. The kidney is a major target organ of this inflammatory process. The deposition of the acute-phase reactant serum amyloid A (SAA) as amyloid causes progressive glomerular and vascular damage and leads to organ failure. In this review we focus on the potential impact of hereditary autoinflammatory diseases on renal function, provide red flags that may guide the clinical suspicion of amyloid kidney damage and discuss the relevance of close renal monitoring for early diagnosis and prompt treatment...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742059/autoinflammatory-diseases-as-a-cause-of-acute-abdominal-pain-in-the-emergency-department
#6
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/29742057/the-eye-involvement-in-monogenic-autoinflammatory-diseases-literature-review-and-update
#7
REVIEW
Jurgen Sota, Antonio Vitale, Claudia Fabiani, Bruno Frediani, Donato Rigante, Gian Marco Tosi, Maria Elisabetta Zannin, Luca Cantarini
Monogenic autoinflammatory diseases (AIDs) are rare entities characterised by improper activation of the innate immune system. This in turn determines recurrent episodes of systemic inflammation characterised by fever, which is variously combined with a wide range of inflammatory manifestations involving the skin, joints, serous membranes, gastrointestinal tract, and central nervous system. As shown by research efforts conducted during the last decade, the eye is not exempt from the systemic inflammatory process and may be involved in almost all of the most frequent AIDs, with several distinct peculiarities...
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/29723363/macrophage-migration-inhibitory-factor-as-an-incriminating-agent-in-vitiligo
#12
Azza Gaber Antar Farag, Mostafa Ahmed Hammam, Mona SalahEldeen Habib, Nada Farag Elnaidany, Mona Eaid Kamh
BACKGROUND: Vitiligo is an autoimmune skin disorder in which the loss of melanocytes is mainly attributed to defective autoimmune mechanisms and, lately, there has been more emphasis on autoinflammatory mediators. Among these is the macrophage migration inhibitory factor, which is involved in many autoimmune skin diseases. However, little is known about the contribution of this factor to vitiligo vulgaris. OBJECTIVE: To determine the hypothesized role of migration inhibitory factor in vitiligo via estimation of serum migration inhibitory factor levels and migration inhibitory factor mRNA concentrations in patients with vitiligo compared with healthy controls...
March 2018: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29712770/redd1-autophagy-pathway-is-associated-with-neutrophil-driven-il-1%C3%AE-inflammatory-response-in-active-ulcerative-colitis
#13
Iliana Angelidou, Akrivi Chrysanthopoulou, Alexandros Mitsios, Stella Arelaki, Athanasios Arampatzioglou, Konstantinos Kambas, Dimitrios Ritis, Victoria Tsironidou, Ioannis Moschos, Vasiliki Dalla, Dimitrios Stakos, Georgios Kouklakis, Ioannis Mitroulis, Konstantinos Ritis, Panagiotis Skendros
Infiltration of neutrophils into colonic mucosa has been associated with the severity of ulcerative colitis (UC). We investigated the effect of disease microenvironment on the release of neutrophil extracellular traps (NETs) as well as the involved mechanisms in NETosis and whether certain NET proteins are correlated with disease phenotype. Peripheral blood neutrophils, sera, and colonic tissue were collected from treatment-naive and mesalazine-treated patients with active UC, treatment-naive patients with active Crohn's disease, patients suffering from infectious colitis, or healthy individuals (controls)...
April 30, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
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/29681619/a-decision-tree-for-the-genetic-diagnosis-of-deficiency-of-adenosine-deaminase-2-dada2-a-french-reference-centres-experience
#16
Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Genevieve, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel-Moranne, Nathalie Tieulie, Jonathan London, Florence Uettwiller, Sophie Georgin-Lavialle, Alexandre Belot, Isabelle Koné-Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay
Deficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference centres and to improve the indications for genetic testing. DNA from 66 patients with clinically suspected DADA2 were sequenced by Sanger or next-generation sequencing. Detailed epidemiological, clinical and biological features were collected by use of a questionnaire and were compared between patients with and without genetic confirmation of DADA2...
April 23, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29663815/canakinumab-as-monotherapy-for-treatment-of-familial-mediterranean-fever-first-report-in-central-and-eastern-europe-region
#17
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/29652766/-chronic-recurrent-multifocal-osteomyelitis-of-the-mandible-a-diagnostic-challenge
#18
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/29617808/novel-aspects-of-the-assembly-and-activation-of-inflammasomes-with-focus-on-the-nlrc4-inflammasome
#19
William G Fusco, Joseph A Duncan
Inflammasomes are multiprotein structures that activate caspase-1, support secretion of pro-inflammatory cytokines, IL-1β and IL-18, and also induce inflammatory programmed cell death, termed pyoptosis. Inflammasomes are activated in response to the detection of endogenous and microbially derived danger signals and are mediated by several classes of inflammasome-forming sensors. These include several nucleotide-binding proteins of the NOD-like receptor (NLR) family, including NLRP1, NLRP3 and NLRC4, as well as the proteins Absent in Melanoma 2 (AIM2) and Pyrin...
February 14, 2018: International Immunology
https://www.readbyqxmd.com/read/29596638/the-multifaceted-presentation-of-chronic-recurrent-multifocal-osteomyelitis-a-series-of-486-cases-from-the-eurofever-international-registry
#20
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
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