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Keywords Autoantibody in autoinflammato...

Autoantibody in autoinflammatory disease

https://read.qxmd.com/read/38503075/the-role-of-neutrophils-and-neutrophil-extracellular-traps-nets-in-stages-outcomes-and-pregnancy-complications
#1
REVIEW
Lida Aslanian-Kalkhoran, Amir Mehdizadeh, Leili Aghebati-Maleki, Shahla Danaii, Sima Shahmohammadi-Farid, Mehdi Yousefi
Neutrophils are the main components of innate immunity to eliminate infectious pathogens. Neutrophils play a role in several stages of the reproductive cycle, and their presence in the female reproductive system is highly regulated, so their function may change during pregnancy. Emerging evidence suggests that neutrophils are important at all stages of pregnancy, from implantation, placentation, and connective tissue regeneration to birth, as well as birth itself. Neutrophil extracellular traps (NETs) are defined as extracellular strands of unfolded DNA together with histone complexes and neutrophil granule proteins...
March 8, 2024: Journal of Reproductive Immunology
https://read.qxmd.com/read/38464209/activated-sting-in-the-thymus-alters-t-cell-development-and-selection-leading-to-autoimmunity
#2
Zimu Deng, Christopher S Law, Santosh Kurra, Noa Simchoni, Anthony K Shum
Classifying systemic inflammatory disorders as autoinflammatory or autoimmune provides insight into disease pathogenesis and whether treatment should target innate molecules and their signaling pathways or the adaptive immune response. COPA syndrome is a monogenic disorder of immune dysregulation that leads to interstitial lung disease and high-titer autoantibodies. Studies show constitutive activation of the innate immune molecule STING is centrally involved in disease. However, the mechanisms by which STING results in loss of T cell tolerance and autoimmunity in COPA syndrome or more common autoimmune diseases is not understood...
February 19, 2024: bioRxiv
https://read.qxmd.com/read/38404477/postoperative-pyoderma-gangrenosum-in-a-patient-presenting-with-acute-peripheral-artery-disease-secondary-to-antiphospholipid-syndrome-a-case-report
#3
Haijun Wei, Ke Wang, Wei Huang, Yang Liu
Pyoderma gangrenosum (PG) is a rare autoinflammatory neutrophilic dermatosis clinically characterized by painful nodules, red papules or plaques that rapidly erode into ulcers. We report a 53-year-old febrile male patient with acute peripheral arterial disease who underwent transtibial amputation after failed thrombolysis. Five days after amputation, an ulcer developed around the cannulation site of the right internal jugular vein that was indicative of pathergy. The patient's fever did not improve after surgery, and purpuric discoloration and punctate ulcers of the skin near the amputation site became apparent, leading to re-debridement...
2024: Clinical, Cosmetic and Investigational Dermatology
https://read.qxmd.com/read/38401466/p2rx7-gene-variants-associate-with-altered-inflammasome-assembly-and-reduced-pyroptosis-in-chronic-nonbacterial-osteomyelitis-cno
#4
JOURNAL ARTICLE
Amandine Charras, Sigrun R Hofmann, Allison Cox, Felix Schulze, Susanne Russ, Sarah Northey, Xuan Liu, Yongxiang Fang, Sam Haldenby, Hella Hartmann, Alexander G Bassuk, Ana Carvalho, Francesca Sposito, Lev Grinstein, Angela Rösen-Wolff, Almut Meyer-Bahlburg, Michael W Beresford, Elke Lainka, Dirk Föll, Helmut Wittkowski, Hermann J Girschick, Henner Morbach, Steffen Uebe, Ulrike Hüffmeier, Polly J Ferguson, Christian M Hedrich
Chronic nonbacterial osteomyelitis (CNO), an autoinflammatory bone disease primarily affecting children, can cause pain, hyperostosis and fractures, affecting quality-of-life and psychomotor development. This study investigated CNO-associated variants in P2RX7, encoding for the ATP-dependent trans-membrane K+ channel P2X7, and their effects on NLRP3 inflammasome assembly. Whole exome sequencing in two related transgenerational CNO patients, and target sequencing of P2RX7 in a large CNO cohort (N = 190) were conducted...
February 22, 2024: Journal of Autoimmunity
https://read.qxmd.com/read/38182800/global-trends-in-research-of-melanoma-differentiation-associated-gene-5-a-bibliometric-analysis-from-2002-to-2022
#5
JOURNAL ARTICLE
Xueting Yuan, Jia Shi, Zhao Peng, Liying Peng, Shuang Zhou, Chanyuan Wu, Jiuliang Zhao, Dong Xu, Mengtao Li, Qian Wang, Xiaofeng Zeng
BACKGROUND: Melanoma differentiation-associated gene 5 (MDA5), as a cytoplasmic sensor for viral double-stranded RNAs, has received increasing attention in recent years. Although considerable headway has been made on the functional role of MDA5 in antiviral immunity and autoimmune disease, the available literature is insufficient to assess the vast field. METHODS: This study performed a bibliometric analysis to investigate current hotspots in the global scientific output of MDA5 over the past two decades...
January 6, 2024: Clinical Rheumatology
https://read.qxmd.com/read/38160098/-not-available
#6
REVIEW
I Elhani, A Aouba, Q Riller, H Vergneault, G Boursier, F Rieux-Laucat, V Hentgen, S Georgin-Lavialle
A20 Haploinsufficiency (HA20) is a monogenic autoinflammatory disease associated with an autosomal dominant mutation in the TNFAIP3 gene. It induces a defect in the inactivation of the pro-inflammatory NF-κB pathway. Less than 200 cases have been described worldwide. The clinical picture of the disease is essentially based on the association of recurrent fever and/or biologic inflammatory syndrome, aphtosis, often bipolar, and cutaneous folliculitis. However, the clinical spectrum of HA20 is very broad, including gastrointestinal (mainly colonic ulceration), articular, cutaneous, pericardial and lymph node involvement, as well as frequent association with organ-specific or non-specific autoimmune manifestations and/or autoantibodies, including antinuclear antibodies and anti-dsDNA...
December 29, 2023: La Revue de Médecine Interne
https://read.qxmd.com/read/38128432/connecting-the-dots-an-updated-review-of-the-role-of-autoimmunity-in-narcolepsy-and-emerging-immunotherapeutic-approaches
#7
REVIEW
Parya Valizadeh, Sara Momtazmanesh, Giuseppe Plazzi, Nima Rezaei
BACKGROUND: Narcolepsy type 1 (NT1) is a chronic disorder characterized by pathological daytime sleepiness and cataplexy due to the disappearance of orexin immunoreactive neurons in the hypothalamus. Genetic and environmental factors point towards a potential role for inflammation and autoimmunity in the pathogenesis of the disease. This study aims to comprehensively review the latest evidence on the autoinflammatory mechanisms and immunomodulatory treatments aimed at suspected autoimmune pathways in NT1...
December 16, 2023: Sleep Medicine
https://read.qxmd.com/read/38020617/case-report-cerebral-amyloid-angiopathy-related-inflammation-in-a-patient-with-granulomatosis-with-polyangiitis
#8
Rebecca M Seifert, Michael Rauch, Randolf Klingebiel, Lennart-Maximilian Boese, Isabell Greeve, Martin Rudwaleit, Wolf-Rüdiger Schäbitz
BACKGROUND: Cerebral amyloid angiopathy-related inflammation (CAA-ri) defines a subacute autoimmune encephalopathy, which is presumably caused by increased CSF concentrations of anti-Aβ autoantibodies. This autoinflammatory reaction is temporally and regionally associated with microglial activation, inflammation and radiological presence of vasogenic edema. Clinical characteristics include progressive demential development as well as headache and epileptic seizures. In the absence of histopathologic confirmation, the criteria defined by Auriel et al...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37759792/patients-with-systemic-juvenile-idiopathic-arthritis-sjia-show-differences-in-autoantibody-signatures-based-on-disease-activity
#9
JOURNAL ARTICLE
Julie Krainer, Michaela Hendling, Sandra Siebenhandl, Sabrina Fuehner, Christoph Kessel, Emely Verweyen, Klemens Vierlinger, Dirk Foell, Silvia Schönthaler, Andreas Weinhäusel
Systemic juvenile idiopathic arthritis (SJIA) is a severe rheumatic disease in children. It is a subgroup of juvenile idiopathic arthritis (JIA; MIM #604302), which is the most common rheumatic disease in children. The diagnosis of SJIA often comes with a significant delay, and the classification between autoinflammatory and autoimmune disease is still discussed. In this study, we analyzed the immunological responses of patients with SJIA, using human proteome arrays presenting immobilized recombinantly expressed human proteins, to analyze the involvement of autoantibodies in SJIA...
September 15, 2023: Biomolecules
https://read.qxmd.com/read/37716078/hepatic-safety-and-efficacy-of-immunomodulatory-drugs-used-in-patients-with-autoimmune-hepatitis
#10
JOURNAL ARTICLE
Benedetta Terziroli Beretta-Piccoli, Gustav Buescher, George Dalekos, Kalliopi Zachou, Anja Geerts, Nasser Semmo, Mirjam Kolev, Eleonora De Martin, Maciej K Janik, João Madaleno, Milica Lalosevic Stojkovic, Jérôme Dumortier, Thomas Vanwolleghem, Ida Schregel, Silja Steinmann, Florence Lacaille, Marcial Sebode
BACKGROUND AND AIMS: There is little data on the hepatic efficacy and safety of immunomodulatory drugs used in patients with autoimmune hepatitis (AIH), despite their established use in dermatology, rheumatology and inflammatory bowel diseases (IBD). Our aim was to collect real-life data on the experience of expert centres in treating AIH patients with these drugs, considered unconventional for AIH management. METHODS: Online survey among hepatology centres being part of the European Reference Network on Hepatological Diseases (ERN RARE-LIVER)...
September 14, 2023: Journal of Autoimmunity
https://read.qxmd.com/read/37698143/immunity-in-the-balance-fatal-disseminated-adenovirus-infection-in-a-patient-undergoing-plasma-exchange-and-immunosuppressive-chemotherapy-for-anti-glomerular-basement-membrane-disease
#11
Jeremy W Jacobs, Cristina A Figueroa Villalba, Kristin Stendahl, Christopher A Tormey, Elizabeth Abels
Anti-glomerular basement membrane (anti-GBM) disease (formerly known as Goodpasture's syndrome) is a rare autoinflammatory condition that affects the renal and/or pulmonary capillaries. The standard therapeutic regimen for anti-GBM disease involves therapeutic plasma exchange (TPE), cyclophosphamide, and corticosteroids to rapidly remove and inhibit autoantibody production and reduce organ inflammation. Herein we report an 82-year-old female who developed anti-GBM disease but expired despite therapy, secondary to multi-organ failure in the setting of disseminated adenovirus disease...
September 12, 2023: Journal of Clinical Apheresis
https://read.qxmd.com/read/37673519/autoantibodies-in-psoriatic-disease
#12
REVIEW
John Koussiouris, Vinod Chandran
Psoriasis is an inflammatory skin disease affecting over 8 million people in the US and Canada. Approximately, a quarter of psoriasis patients have an inflammatory arthritis termed psoriatic arthritis (PsA). Psoriatic disease encompassing both psoriasis and PsA is regarded as an immune-mediated inflammatory disease, exhibiting both autoimmune and autoinflammatory features. A review of the current literature on the presence and clinical significance of autoantibodies found in psoriatic disease are presented...
2023: Advances in Clinical Chemistry
https://read.qxmd.com/read/37672064/-autoinflammatory-syndromes
#13
JOURNAL ARTICLE
Hanna Bonnekoh, Martin Krusche, Eugen Feist, Annette Doris Wagner, Anne Pankow
The concept of autoinflammation includes a heterogeneous group of monogenic and polygenic diseases. These are characterized by excessive activation of the innate immune system without antigen-specific T cells or autoantibodies. The diseases are characterized by periodic episodes of fever and increased inflammation parameters. Monogenic diseases include familial Mediterranean fever (FMF) and the newly described VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome. Heterogeneous diseases include adult-onset Still's disease and Schnitzler syndrome...
October 2023: Zeitschrift Für Rheumatologie
https://read.qxmd.com/read/37578730/a-knock-in-mouse-model-of-cryopyrin-associated-periodic-syndromes
#14
JOURNAL ARTICLE
Arinna Bertoni, Ignazia Prigione, Sabrina Chiesa, Isabella Ceccherini, Marco Gattorno, Anna Rubartelli
Autoinflammatory diseases are a group of distinct disorders characterized by recurrent fever and inflammatory manifestations predominantly mediated by cytokines of the innate immune system, particularly IL-1β, without involvement of autoantibodies or autoreactive T lymphocytes. Cryopyrin-associated periodic syndromes (CAPS), due to NLRP3 gene mutations, represent the prototype of these diseases. Owing to their genetic nature, most of these disorders have an early onset, ranging from the first hours to the first decade of life...
2023: Methods in Molecular Biology
https://read.qxmd.com/read/37563333/monogenic-autoinflammatory-disease-associated-cardiac-damage
#15
REVIEW
Qijiao Wei, Li Sun
INTRODUCTION: Autoinflammatory diseases (AIDs) constitute several disorders that are characterized by the presence of recurrent episodes of unprovoked inflammation due to dysregulated innate immune system in the absence of autoantibodies or infections. Most of them have a strong genetic background, with mutations in single genes involved in inflammation referred to monogenic AIDs. In this article, we will review the cardiac manifestations in various monogenic AIDs. AREAS COVERED: Various cardiac manifestations can be seen in various monogenic AIDs, including pericarditis, valvular diseases, coronary diseases, cardiomyopathies, and pulmonary hypertension, especially in Familial Mediterranean fever (FMF)...
August 10, 2023: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://read.qxmd.com/read/37546720/activation-of-autoreactive-lymphocytes-in-the-lung-by-sting-gain-of-function-mutation-radioresistant-cells
#16
Kevin MingJie Gao, Kerstin Nündel, Kristy Chiang, Xihui Yin, Paul J Utz, Kate Fitzgerald, Ann Marshak-Rothstein
UNLABELLED: Gain-of-function mutations in the dsDNA sensing adaptor STING lead to a severe autoinflammatory syndrome known as STING-associated vasculopathy with onset in Infancy (SAVI). SAVI patients develop interstitial lung disease (ILD) and commonly produce anti-nuclear antibodies (ANAs), indicative of concomitant autoimmunity. Mice heterozygous for the most common SAVI mutation, V154M (VM), also develop ILD, triggered by nonhematopoietic VM cells, but exhibit severe peripheral lymphopenia, low serum Ig titers and fail to produce autoantibodies...
July 28, 2023: bioRxiv
https://read.qxmd.com/read/37536165/clinical-features-and-long-term-outcomes-of-patients-with-systemic-polyarteritis-nodosa-diagnosed-since-2005-data-from-196-patients
#17
JOURNAL ARTICLE
Julien Rohmer, Yann Nguyen, Ludovic Trefond, Christian Agard, Jean Sebastien Allain, Alice Berezne, Pierre Charles, Pascal Cohen, Guillaume Gondran, Matthieu Groh, Tessa Huscenot, Carole Lacout, Estibaliz Lazaro, Jonathan London, François Maurier, Arsène Mekinian, Rafik Mesbah, Isabelle Nubourgh, Laurent Perard, Xavier Puéchal, Gregory Pugnet, Mathieu Puyade, Viviane Queyrel, Arthur Roux, Diane Rouzaud, Cecile-Audrey Durel, Loïc Guillevin, Benjamin Terrier
BACKGROUND: The landscape of polyarteritis nodosa (PAN) has substantially changed during the last decades. Recent data regarding causes, characteristics, and prognosis of systemic PAN in the modern era are lacking. METHODS: This retrospective study included patients with systemic PAN referred to the French Vasculitis Study Group between 2005 and 2019. Characteristics, associated conditions and outcomes were collected, and predictors of relapse and death were analyzed...
September 2023: Journal of Autoimmunity
https://read.qxmd.com/read/37510214/identification-by-exome-sequencing-of-predisposing-variants-in-familial-cases-of-autoinflammatory-recurrent-fevers
#18
JOURNAL ARTICLE
Eugenio Sangiorgi, Alessia Azzarà, Roberto Rumore, Ilaria Cassano, Elena Verrecchia, Luciano Giacò, Maria Alessandra Tullio, Fiorella Gurrieri, Raffaele Manna
Periodic fever syndromes include autoinflammatory disorders (AID) that involve innate immunity. These disorders are characterized by recurrent fevers and aberrant multi-organ inflammation, without any involvement of T or B cells or the presence of autoantibodies. A complex genetic architecture has been recognized for many AID. However, this complexity has only been partially uncovered for familial Mediterranean fever and other conditions that have a classical monogenic origin and Mendelian transmission. Several gene panels are currently available for molecular diagnosis in patients suspected of having AID...
June 21, 2023: Genes
https://read.qxmd.com/read/37381619/the-onset-of-de-novo-autoantibodies-in-healthcare-workers-after-mrna-based-anti-sars-cov-2-vaccines-a-single-centre-prospective-follow-up-study
#19
JOURNAL ARTICLE
M C Sacchi, C Pelazza, M Bertolotti, L Agatea, P De Gaspari, S Tamiazzo, D Ielo, P Stobbione, M Grappiolo, T Bolgeo, P Novel, M M Ciriello, A Maconi
Nowadays, data concerning the risk of autoimmune disease after SARS-CoV-2 (COVID-19) vaccination is controversial. The aim of this single centre prospective follow-up study was to evaluate whether healthcare workers (HCWs) vaccinated with BNT162b2 mRNA and mRNA-1273 will show a development and/or a persistence of autoantibodies, focussing on the detection of antibodies against nuclear antigens (antinuclear antibodies, ANA). We enrolled 155 HCWs, however only 108 of them received the third dose and were considered for further analysis...
December 2023: Autoimmunity
https://read.qxmd.com/read/37350971/case-report-a-novel-irf2bp2-mutation-in-an-iei-patient-with-recurrent-infections-and-autoimmune-disorders
#20
JOURNAL ARTICLE
Yiwen Pan, Guoguo Shang, Jing Li, Yuwen Zhang, Jianying Liu, Yuan Ji, Jing Ding, Xin Wang
INTRODUCTION: Inborn errors of immunity (IEI) are a heterogeneous group of disorders characterized by increased risk of infections, autoimmunity, autoinflammatory diseases, malignancy and allergy. Next-generation sequencing has revolutionized the identification of genetic background of these patients and assists in diagnosis and treatment. In this study, we identified a probable unique monogenic cause of IEI, and evaluated the immunological methods and pathogenic detections. METHODS: A family with a member with a clinical diagnosis of IEI was screened by whole genomic sequencing (WGS)...
2023: Frontiers in Immunology
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