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Autoantibody in autoinflammatory disease

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https://www.readbyqxmd.com/read/29773275/periodic-fever-syndromes
#1
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
#2
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/29742056/a-dermatologic-perspective-on-autoinflammatory-diseases
#3
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/29610179/inherited-immunodeficiency-a-new-association-with-early-onset-childhood-panniculitis
#4
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/29317407/a20-haploinsufficiency-ha20-clinical-phenotypes-and-disease-course-of-patients-with-a-newly-recognised-nf-kb-mediated-autoinflammatory-disease
#5
Florence A Aeschlimann, Ezgi D Batu, Scott W Canna, Ellen Go, Ahmet Gül, Patrycja Hoffmann, Helen L Leavis, Seza Ozen, Daniella M Schwartz, Deborah L Stone, Annet van Royen-Kerkof, Daniel L Kastner, Ivona Aksentijevich, Ronald M Laxer
OBJECTIVES: The association between mutations in TNFAIP3 , encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20). METHODS: Data for all cases from the initial publication, and additional cases identified through collaborations since, were collected using standardised data collection forms. RESULTS: A total of 16 patients (13 female) from seven families with a genetic diagnosis of HA20 were included...
January 9, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29198619/new-mosaic-tiles-in-childhood-hereditary-autoinflammatory-disorders
#6
REVIEW
Donato Rigante
The protean clinical phenotypes of hereditary autoinflammatory disorders (HAID) are caused by abnormal activation of innate immunity and consist of seemingly unprovoked inflammatory flares localized to multiple organs, such as the skin, joints, serosal membranes, gut, and central nervous system. Different mutations in genes implied in activation of the interleukin-1 (IL-1)-structured inflammasome, cytoskeletal signaling and apoptosis contribute to the pathogenesis of different HAID, which mostly start in childhood with self-limited flares unrelated to infectious agents, autoantibody production or autoreactive cells...
January 2018: Immunology Letters
https://www.readbyqxmd.com/read/29177082/autoimmune-autoinflammatory-rheumatoid-arthritis-overlaps-a-rare-but-potentially-important-subgroup-of-diseases
#7
Sinisa Savic, Anoop Mistry, Anthony G Wilson, Gabriela Barcenas-Morales, Rainer Doffinger, Paul Emery, Dennis McGonagle
At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases of classical autoantibody associated RA that had clinical, genetic and therapeutic responses indicative of coexistent autoinflammatory disease. Five patients with clinically overlapping features between RA and SAID including polysynovitis and autoantibody/shared epitope positivity, and who had abrupt severe self-limiting attacks including fevers and serositis, are described...
2017: RMD Open
https://www.readbyqxmd.com/read/28956095/imaging-findings-of-copa-syndrome-in-a-12-year-old-boy
#8
Razan Noorelahi, Geovany Perez, Hansel J Otero
Copa syndrome is a newly described autosomal dominant autoinflammatory disease that presents as pulmonary hemosiderosis and polyarticular arthritis. Twenty-one cases from five families have been reported to date. We present chest computed tomography (CT) and temporomandibular joint magnetic resonance (MR) findings of a 12-year-old boy presenting with dyspnea on exertion, fatigue and clubbing. Additional findings included a restrictive pattern of pulmonary involvement and positive inflammatory markers and autoantibodies...
February 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/28529705/case-report-beh%C3%A3-et-s-disease-accompanied-with-vitiligo
#9
Ragıp Ertaş, Kemal Özyurt, Atıl Avcı, Sule Ketenci Ertas, Mustafa Atasoy
Recently, a few case reports and clinical studies have been published that explore the association of Behçet's Disease (BD) and vitiligo, with conflicting results. Genetic and immunological properties of BD and presence of autoantibodies support autoimmunity, but clinical features suggest autoinflammatory diseases. BD is thought to be a cornerstone between autoimmune and autoinflammatory diseases. On the other hand, vitiligo has been accepted as an autoimmune disease with associations of other autoimmune disorders and there is a possible role of autoimmunity in pathogenesis of the disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28225960/skin-symptoms-as-diagnostic-clue-for-autoinflammatory-diseases
#10
REVIEW
Alvaro Moreira, Barbara Torres, Juliano Peruzzo, Alberto Mota, Kilian Eyerich, Johannes Ring
Autoinflammatory disorders are immune-mediated diseases with increased production of inflammatory cytokines and absence of detectable autoantibodies. They course with recurrent episodes of systemic inflammation and fever is the most common symptom. Cutaneous manifestations are prevalent and important to diagnosis and early treatment of the syndromes. The purpose of this review is to emphasize to dermatologists the skin symptoms present in these syndromes in order to provide their early diagnosis.
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27828627/inflammasomes-and-dermatology
#11
REVIEW
Daniel Coelho de Sá, Cyro Festa
Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases. Autoinflammatory diseases refer to disorders in which local factors lead to the activation of innate immune cells, causing tissue damage when in the absence of autoantigens and autoantibodies. Skin symptoms include the main features of monogenic inflammasomopathies, such as Cryopyrin-Associated Periodic Syndromes (CAPS), Familial Mediterranean Fever (FMF), Schnitzler Syndrome, Hyper-IgD Syndrome (HIDS), PAPA Syndrome, and Deficiency of IL-1 Receptor Antagonist (DIRA)...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27807192/suppression-of-irak1-or-irak4-catalytic-activity-but-not-type-1-ifn-signaling-prevents-lupus-nephritis-in-mice-expressing-a-ubiquitin-binding-defective-mutant-of-abin1
#12
Sambit K Nanda, Marta Lopez-Pelaez, J Simon C Arthur, Francesco Marchesi, Philip Cohen
Polymorphisms in the TNIP1 gene encoding A20-binding inhibitor of NF-κB1 (ABIN1) predispose to lupus and other autoimmune diseases in at least eight human populations. We found previously that knock-in mice expressing a ubiquitin-binding-defective mutant of ABIN1 (ABIN1[D485N]) develop autoimmunity as they age and succumb to a disease resembling lupus nephritis in humans. In this article, we report that Flt3-derived dendritic cells from these mice overproduced type 1 IFNs upon stimulation with ligands that activate TLR7 or TLR9...
December 1, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27755185/anticytokine-autoantibodies-in-infection-and-inflammation-an-update
#13
REVIEW
Gabriela Barcenas-Morales, Peter Jandus, Rainer Döffinger
PURPOSE OF REVIEW: Concise overview of the field of anticytokine autoantibodies with a focus on recent developments. RECENT FINDINGS: Advances in particular in the analysis of autoantibodies to IFNγ, granulocyte-macrophage colony-stimulating factor (GM-CSF) and type I IFN are presented. The target epitope for anti-IFNγ autoantibodies has been found to have high homology to a protein from Aspergillus suggesting molecular mimicry as a mechanism of breaking self-tolerance...
December 2016: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27678529/insights-from-mendelian-interferonopathies-comparison-of-candle-savi-with-ags-monogenic-lupus
#14
REVIEW
Hanna Kim, Gina A Montealegre Sanchez, Raphaela Goldbach-Mansky
Autoinflammatory disorders are sterile inflammatory conditions characterized by episodes of early-onset fever and disease-specific patterns of organ inflammation. Recently, the discoveries of monogenic disorders with strong type I interferon (IFN) signatures caused by mutations in proteasome degradation and cytoplasmic RNA and DNA sensing pathways suggest a pathogenic role of IFNs in causing autoinflammatory phenotypes. The IFN response gene signature (IGS) has been associated with systemic lupus erythematosus (SLE) and other autoimmune diseases...
October 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/27454862/autoantibodies-to-post-translationally-modified-type-i-and-ii-collagen-in-charcot-neuroarthropathy-in-subjects-with-type-2-diabetes-mellitus
#15
COMPARATIVE STUDY
Paola Rizzo, Dario Pitocco, Francesco Zaccardi, Enrico Di Stasio, Rocky Strollo, Alessandro Rizzi, Giuseppe Scavone, Federica Costantini, Marco Galli, Giovanni Tinelli, Andrea Flex, Salvatore Caputo, Paolo Pozzilli, Raffaele Landolfi, Giovanni Ghirlanda, Ahuva Nissim
AIMS: Charcot neuroarthropathy (CN) is a disabling complication, culminating in bone destruction and involving joints and articular cartilage with high inflammatory environment. Its real pathogenesis is as yet unknown. In autoinflammatory diseases, such as rheumatoid arthritis, characterized by inflammation and joint involvement, autoantibodies against oxidative post-translationally modified (oxPTM) collagen type I (CI) and type II (CII) were detected. Therefore, the aim of our study was to assess the potential involvement of autoimmunity in charcot neuroarthropathy, investigating the presence of autoantibodies oxPTM-CI and oxPTM-CII, in participants with charcot neuroarthropathy...
February 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/27295706/-autoinflammatory-diseases
#16
Ricardo A G Russo, María M Katsicas
The monogenic autoinflammatory diseases are rare, genetic disorders resulting in constitutive innate immune defects leading to excessive response to danger signals, spontaneous activation of inflammatory mediators or loss of inhibitory regulators. During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system...
2016: Medicina
https://www.readbyqxmd.com/read/27146825/testing-the-activity-of-complement-convertases-in-serum-plasma-for-diagnosis-of-c4nef-mediated-c3-glomerulonephritis
#17
Anna M Blom, Fernando Corvillo, Michal Magda, Grzegorz Stasiłojć, Pilar Nozal, Miguel Ángel Pérez-Valdivia, Virginia Cabello-Chaves, Santiago Rodríguez de Córdoba, Margarita López-Trascasa, Marcin Okrój
Autoantibodies termed C3-nephritic factor (C3NeF), which stabilize convertases of the alternative complement pathway, often stimulate autoinflammatory diseases. However, knowledge about analogous autoantibodies acting on the classical pathway (C4NeF) is limited to a few reports, which indicate association with kidney dysfunction, systemic lupus erythematous, and infections. C4NeF may appear independently from C3NeF, but the lack of a routine diagnostic method predisposes C4NeF for being an underestimated player in autoinflammatory episodes...
July 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27106250/pyoderma-gangrenosum-and-its-syndromic-forms-evidence-for-a-link-with-autoinflammation
#18
REVIEW
A V Marzano, A Borghi, P L Meroni, M Cugno
Pyoderma gangrenosum is a rare inflammatory neutrophilic dermatosis manifesting as painful ulcers with violaceous, undermined borders on the lower extremities. It may occur in the context of classic syndromes like PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) and SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis), as well as in a recently described entity named PASH (pyoderma gangrenosum, acne and suppurative hidradenitis). Pyoderma gangrenosum has recently been included within the spectrum of autoinflammatory diseases, which are characterized by recurrent episodes of sterile inflammation, without circulating autoantibodies and autoreactive T cells...
November 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27096368/noncanonical-autophagy-inhibits-the-autoinflammatory-lupus-like-response-to-dying-cells
#19
Jennifer Martinez, Larissa D Cunha, Sunmin Park, Mao Yang, Qun Lu, Robert Orchard, Quan-Zhen Li, Mei Yan, Laura Janke, Cliff Guy, Andreas Linkermann, Herbert W Virgin, Douglas R Green
Defects in clearance of dying cells have been proposed to underlie the pathogenesis of systemic lupus erythematosus (SLE). Mice lacking molecules associated with dying cell clearance develop SLE-like disease, and phagocytes from patients with SLE often display defective clearance and increased inflammatory cytokine production when exposed to dying cells in vitro. Previously, we and others described a form of noncanonical autophagy known as LC3-associated phagocytosis (LAP), in which phagosomes containing engulfed particles, including dying cells, recruit elements of the autophagy pathway to facilitate maturation of phagosomes and digestion of their contents...
May 5, 2016: Nature
https://www.readbyqxmd.com/read/26948930/shaping-the-spectrum-from-autoinflammation-to-autoimmunity
#20
REVIEW
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
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