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https://www.readbyqxmd.com/read/29036804/rheopheresis-as-a-causal-therapy-option-for-systemic-scleroderma-ssc
#1
Stine Lutze, G Daeschlein, W Konschake, Michael Jünger
A complex pathomechanism accounts systemic sclerosis as a form of collagenosis. A triad of vasculopathy, autoinflammation, and dysbalance of the fibroblast function can be seen as cause, as well as symptomatic appearance. Comparative with other collagenoses, e.g. Lupus erythematosus, vasculopathy, instead of autoinflammation, appears to be clinically important in systemic scleroderma. The fact that autoinflammation does not represent the major role in the maintenance of the disease is also evident by the lack of therapeutic effects of classical systemic immunosuppressants...
October 7, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28974505/hematopoietic-stem-cell-transplantation-rescues-the-hematological-immunological-and-vascular-phenotype-in-dada2
#2
Hasan Hashem, Ashish R Kumar, Ingo Müller, Florian Babor, Robbert Bredius, Jignesh Dalal, Amy P Hsu, Steven M Holland, Dennis D Hickstein, Stephen Jolles, Robert Krance, Ghadir Sasa, Mervi Taskinen, Minna Koskenvuo, Janna Saarela, Joris van Montfrans, Keith Wilson, Barbara Bosch, Leen Moens, Michael Hershfield, Isabelle Meyts
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1 DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers, livedo reticularis, polyarteritis nodosa, lacunar ischemic strokes and intracranial hemorrhages), immunodeficiency and bone marrow failure. TNF-α blockade is the treatment of choice for the autoinflammation and vascular manifestations. Hematopoietic stem cell transplantation (HSCT) represents a potential definitive treatment. We present a cohort of 14 patients from 6 countries who received HSCT for DADA2...
October 3, 2017: Blood
https://www.readbyqxmd.com/read/28957823/nlrc4-inflammasomopathies
#3
Neil Romberg, Tiphanie P Vogel, Scott W Canna
PURPOSE OF REVIEW: The purpose of the review is to highlight developments in autoinflammatory diseases associated with gain-of-function mutations in the gene encoding NLR-family CARD-containing protein 4 (NLRC4), the NLRC4-inflammasomopathies. RECENT FINDINGS: Three years since the identification of the first autoinflammation with infantile enterocolitis (AIFEC) patients, there is an improved understanding of how the NLRC4 inflammasome and interleukin 18 (IL-18) contribute to gut inflammation in myeloid and also intestinal epithelial cells...
September 27, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28924035/stat1-modulates-tissue-wasting-or-overgrowth-downstream-from-pdgfr%C3%AE
#4
Chaoyong He, Shayna C Medley, Jang Kim, Chengyi Sun, Hae Ryong Kwon, Hiromi Sakashita, Yair Pincu, Longbiao Yao, Danielle Eppard, Bojie Dai, William L Berry, Timothy M Griffin, Lorin E Olson
Platelet-derived growth factor (PDGF) acts through two conserved receptor tyrosine kinases: PDGFRα and PDGFRβ. Gain-of-function mutations in human PDGFRB have been linked recently to genetic diseases characterized by connective tissue wasting (Penttinen syndrome) or overgrowth (Kosaki overgrowth syndrome), but it is unclear whether PDGFRB mutations alone are responsible. Mice with constitutive PDGFRβ signaling caused by a kinase domain mutation (D849V) develop lethal autoinflammation. Here we used a genetic approach to investigate the mechanism of autoinflammation in Pdgfrb(+/D849V) mice and test the hypothesis that signal transducer and activator of transcription 1 (STAT1) mediates this phenotype...
August 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28919362/a-homozygote-trex1-mutation-in-two-siblings-with-different-phenotypes-chilblains-and-cerebral-vasculitis
#5
Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Derya Ufuk Altintas, Mustafa Yılmaz
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28860276/dna-damage-induced-immune-response-micronuclei-provide-key-platform
#6
Nelson O Gekara
DNA damage-induced activation of the cytoplasmic DNA sensor cGAS influences the outcome of infections, autoinflammation, and cancer. Recent studies by Harding et al. (2017. Nature. http://dx.doi.org/10.1038/nature23470), Mackenzie et al. (2017. Nature. http://dx.doi.org/10.1038/nature23449), and Bartsch et al. (2017. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddx283) demonstrate a role for micronuclei formation in DNA damage-induced immune activation.
October 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28835462/a-novel-pyrin-associated-autoinflammation-with-neutrophilic-dermatosis-mutation-further-defines-14-3-3-binding-of-pyrin-and-distinction-to-familial-mediterranean-fever
#7
Fiona Moghaddas, Rafael Llamas, Dominic De Nardo, Helios Martinez-Banaclocha, Juan J Martinez-Garcia, Pablo Mesa-Del-Castillo, Paul J Baker, Vanessa Gargallo, Anna Mensa-Vilaro, Scott Canna, Ian P Wicks, Pablo Pelegrin, Juan I Arostegui, Seth L Masters
OBJECTIVE: Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation disrupts a binding motif of the regulatory 14-3-3 proteins within pyrin. Here, we investigate a family with clinical features consistent with PAAND in whom the novel p.E244K MEFV mutation, located in the +2 site of the 14-3-3 binding motif in pyrin, has been found. METHODS: Multiplex cytokine analyses were performed on p...
August 23, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28754453/pathophysiologic-implications-of-innate-immunity-and-autoinflammation-in-the-biliary-epithelium
#8
REVIEW
Mario Strazzabosco, Romina Fiorotto, Massimiliano Cadamuro, Carlo Spirli, Valeria Mariotti, Eleanna Kaffe, Roberto Scirpo, Luca Fabris
The most studied physiological function of biliary epithelial cells (cholangiocytes) is to regulate bile flow and composition, in particular the hydration and alkalinity of the primary bile secreted by hepatocytes. After almost three decades of studies it is now become clear that cholangiocytes are also involved in epithelial innate immunity, in inflammation, and in the reparative processes in response to liver damage. An increasing number of evidence highlights the ability of cholangiocyte to undergo changes in phenotype and function in response to liver damage...
July 25, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28750028/clinical-impact-of-a-targeted-next-generation-sequencing-gene-panel-for-autoinflammation-and-vasculitis
#9
Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sonia Melo Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J Lachmann, Philip N Hawkins, Nigel Klein, Paul A Brogan
BACKGROUND: Monogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated innate immunity. They cause significant morbidity, mortality and economic burden. Here, we aimed to develop and evaluate the clinical impact of a NGS targeted gene panel, the "Vasculitis and Inflammation Panel" (VIP) for AID and vasculitis. METHODS: The Agilent SureDesign tool was used to design 2 versions of VIP; VIP1 targeting 113 genes, and a later version, VIP2, targeting 166 genes...
2017: PloS One
https://www.readbyqxmd.com/read/28745684/-autoinflammatory-diseases-and-kidney-involvement
#10
EDITORIAL
N A Mukhin, M V Bogdanova, V V Rameev, L V Kozlovskaya
Autoinflammatory disease (AID) is a new concept formulated from the results of studying the pathogenesis of familial periodic fevers, a heterogeneous group of genetically determined diseases characterized by causelessly recurrent exacerbations of the inflammatory process due to genetically determined disorders of innate immunity and accompanied by uncontrolled hypersecretion of interleukin-1 (IL-1). These mechanisms were a basic model for understanding a wide range of rheumatologic and other inflammatory diseases of the internal organs...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28740485/tuftsin-phosphorylcholine-maintains-normal-gut-microbiota-in-collagen-induced-arthritic-mice
#11
Hila Ben-Amram, Tomer Bashi, Nir Werbner, Hadar Neuman, Mati Fridkin, Miri Blank, Yehuda Shoenfeld, Omry Koren
Rheumatoid arthritis (RA) is characterized by chronic autoinflammation of the joints, with a prevalence of about 1% in Western populations. Evidence in recent years has linked RA to changes in the gut microbiota (dysbiosis). Interestingly, helminths have been shown to have therapeutic activity in RA. Specifically, a glycoprotein containing phosphorylcholine (PC) extracted from helminths was found to have immunomodulatory activity. We have previously developed a novel chimeric compound composed of tuftsin-PC (TPC) that attenuates the joint destruction in mice with collagen-induced arthritis (CIA)...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28739201/neonatal-detection-of-aicardi-gouti%C3%A3-res-syndrome-by-increased-c26-0-lysophosphatidylcholine-and-interferon-signature-on-newborn-screening-blood-spots
#12
Thais Armangue, Joseph J Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A Morrissey, Norah Nahhas, Guy Helman, Heather Gordish-Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith van Haren, Camilo Toro, Alejandro D Iglesias, Marjo S van der Knaap, Raphaela Goldbach Mansky, Anne B Moser, Richard O Jones, Adeline Vanderver
BACKGROUND: Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy, prompting analysis of this analyte in retrospectively collected samples from individuals affected by AGS...
July 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28738408/cgas-surveillance-of-micronuclei-links-genome-instability-to-innate-immunity
#13
Karen J Mackenzie, Paula Carroll, Carol-Anne Martin, Olga Murina, Adeline Fluteau, Daniel J Simpson, Nelly Olova, Hannah Sutcliffe, Jacqueline K Rainger, Andrea Leitch, Ruby T Osborn, Ann P Wheeler, Marcin Nowotny, Nick Gilbert, Tamir Chandra, Martin A M Reijns, Andrew P Jackson
DNA is strictly compartmentalized within the nucleus to prevent autoimmunity; despite this, cyclic GMP-AMP synthase (cGAS), a cytosolic sensor of double-stranded DNA, is activated in autoinflammatory disorders and by DNA damage. Precisely how cellular DNA gains access to the cytoplasm remains to be determined. Here, we report that cGAS localizes to micronuclei arising from genome instability in a mouse model of monogenic autoinflammation, after exogenous DNA damage and spontaneously in human cancer cells. Such micronuclei occur after mis-segregation of DNA during cell division and consist of chromatin surrounded by its own nuclear membrane...
August 24, 2017: Nature
https://www.readbyqxmd.com/read/28724326/sting-signalling-an-emerging-common-pathway-in-autoimmunity-and-cancer
#14
David McCaffary
The equipoise between the disease states of cancer and autoinflammation has perhaps been underappreciated in clinical practice and biomedical research. However, since the discover of STING (stimulator of interferon genes) as an integral regulator of innate immunity, a wealth of information has implicated this signaling pathway in both of these diseases. Under cellular homeostasis, STING serves to detect - and promote immune defense against - DNA viruses and intracellular bacteria, as described in its initial discovery...
July 20, 2017: Immunopharmacology and Immunotoxicology
https://www.readbyqxmd.com/read/28722725/the-monogenic-autoinflammatory-diseases-define-new-pathways-in-human-innate-immunity-and-inflammation
#15
REVIEW
Kalpana Manthiram, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner
Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and immunological entities caused by dysregulation in the innate immune system. Since then, advances in genomic techniques have led to the identification of new monogenic disorders and their corresponding signaling pathways. Here we review these monogenic autoinflammatory diseases, ranging from periodic fever syndromes caused by dysregulated inflammasome-mediated production of the cytokine IL-1β to disorders arising from perturbations in signaling by the transcription factor NF-κB, ubiquitination, cytokine signaling, protein folding, type I interferon production and complement activation, and we further examine their molecular mechanisms...
July 19, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28718061/schnitzler-syndrome-a-review
#16
REVIEW
L Gusdorf, D Lipsker
PURPOSE OF REVIEW: We focus on recent advances in diagnosis and therapeutic strategies, as well as on pathogenesis of Schnitzler syndrome. RECENT FINDINGS: New diagnostic criteria were established, and their external validity was assessed in a retrospective cohort study. The cytokine interleukin-1 (IL-1) plays a crucial role in the pathogenesis of the Schnitzler syndrome, and this explains the spectacular efficiency of IL-1 blocking therapies. The Schnitzler syndrome is now considered as a late-onset acquired autoinflammatory syndrome in which the cytokine IL-1 plays a crucial role...
August 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28604422/no-shortcuts-new-findings-reinforce-why-nuance-is-the-rule-in-genetic-autoinflammatory-syndromes
#17
Paul Tsoukas, Scott W Canna
PURPOSE OF REVIEW: Practitioners dazed by the evolving concept of autoinflammation are in good company. Despite the clinical challenges autoinflammatory patients present, their study has been fundamental to our understanding of basic human inflammation. This review will focus on the ways in which recent discoveries in genetically mediated autoinflammation broaden and refine the concept. RECENT FINDINGS: Major developments in pyrin inflammasome biology, defective ubiquitination, and the hyperferritinemic syndromes will be highlighted...
September 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28587749/pluripotent-stem-cell-models-of-blau-syndrome-reveal-an-ifn-%C3%AE-dependent-inflammatory-response-in-macrophages
#18
Sanami Takada, Naotomo Kambe, Yuri Kawasaki, Akira Niwa, Fumiko Honda-Ozaki, Kazuki Kobayashi, Mitsujiro Osawa, Ayako Nagahashi, Katsunori Semi, Akitsu Hotta, Isao Asaka, Yasuhiro Yamada, Ryuta Nishikomori, Toshio Heike, Hiroyuki Matsue, Tatsutoshi Nakahata, Megumu K Saito
BACKGROUND: Blau syndrome, or early-onset sarcoidosis, is a juvenile-onset systemic granulomatosis associated with a mutation in nucleotide-binding oligomerization domain 2 (NOD2). The underlying mechanisms of Blau syndrome leading to autoinflammation are still unclear, and there is currently no effective specific treatment for Blau syndrome. OBJECTIVES: To elucidate the mechanisms of autoinflammation in patients with Blau syndrome, we sought to clarify the relation between disease-associated mutant NOD2 and the inflammatory response in human samples...
June 3, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28578473/geoepidemiology-and-immunologic-features-of-autoinflammatory-diseases-a-comprehensive-review
#19
REVIEW
Yvan Jamilloux, Alexandre Belot, Flora Magnotti, Sarah Benezech, Mathieu Gerfaud-Valentin, Emilie Bourdonnay, Thierry Walzer, Pascal Sève, Thomas Henry
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed...
June 3, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28541296/autoinflammation-canakinumab-effective-in-hids-treatment
#20
Dario Ummarino
No abstract text is available yet for this article.
July 2017: Nature Reviews. Rheumatology
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