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Autoimmunity in autoinflammatory disease

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https://www.readbyqxmd.com/read/28042143/mesenchymal-stem-cells-ameliorate-b-cell-mediated-immune-responses-and-increase-il-10-expressing-regulatory-b-cells-in-an-ebi3-dependent-manner
#1
Kyung-Ah Cho, Jun-Kyu Lee, Yu-Hee Kim, Minhwa Park, So-Youn Woo, Kyung-Ha Ryu
Effector B cells are central contributors to the development of autoimmune disease by activating autoreactive T cells, producing pro-inflammatory cytokines and organizing ectopic lymphoid tissue. Conversely, IL-10-producing regulatory B (Breg) cells have pivotal roles in maintaining immunological tolerance and restraining excessive inflammation in autoinflammatory disease. Thus, regulating the equilibrium between antibody-producing effector B cells and Breg cells is critical for the treatment of autoimmune disease...
January 2, 2017: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/28006777/cellular-innate-immunity-an-old-game-with-new-players
#2
Georg Gasteiger, Andrea D'Osualdo, David A Schubert, Alexander Weber, Emanuela M Bruscia, Dominik Hartl
Innate immunity is a rapidly evolving field with novel cell types and molecular pathways being discovered and paradigms changing continuously. Innate and adaptive immune responses are traditionally viewed as separate from each other, but emerging evidence suggests that they overlap and mutually interact. Recently discovered cell types, particularly innate lymphoid cells and myeloid-derived suppressor cells, are gaining increasing attention. Here, we summarize and highlight current concepts in the field, focusing on innate immune cells as well as the inflammasome and DNA sensing which appear to be critical for the activation and orchestration of innate immunity, and may provide novel therapeutic opportunities for treating autoimmune, autoinflammatory, and infectious diseases...
December 23, 2016: Journal of Innate Immunity
https://www.readbyqxmd.com/read/27965258/a-new-autoinflammatory-and-autoimmune-syndrome-associated-with-nlrp1-mutations-naiad-nlrp1-associated-autoinflammation-with-arthritis-and-dyskeratosis
#3
Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, Frédéric Tran Mau-Them, Didier Bessis, Christine Coubes, Eric Frouin, Marieke Seyger, Manon Girard, Jacques Puechberty, Valérie Costes, Michel Rodière, Aurélia Carbasse, Eric Jeziorski, Pierre Portales, Guillaume Sarrabay, Michel Mondain, Christian Jorgensen, Florence Apparailly, Esther Hoppenreijs, Isabelle Touitou, David Geneviève
OBJECTIVES: Inflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like receptor (NLR) containing a PYRIN domain 1 (NLRP1), NLRP3 and NLRC4 plays a key role in this innate immune system by directly assembling in inflammasomes and regulating inflammation. Mutations in NLRP3 and NLRC4 are linked to hereditary autoinflammatory diseases, whereas polymorphisms in NLRP1 are associated with autoimmune disorders such as vitiligo and rheumatoid arthritis...
December 13, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27964755/xgr-software-for-enhanced-interpretation-of-genomic-summary-data-illustrated-by-application-to-immunological-traits
#4
Hai Fang, Bogdan Knezevic, Katie L Burnham, Julian C Knight
BACKGROUND: Biological interpretation of genomic summary data such as those resulting from genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) studies is one of the major bottlenecks in medical genomics research, calling for efficient and integrative tools to resolve this problem. RESULTS: We introduce eXploring Genomic Relations (XGR), an open source tool designed for enhanced interpretation of genomic summary data enabling downstream knowledge discovery...
December 13, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27938384/macrophage-activation-syndrome-triggered-by-coeliac-disease-a-unique-case-report
#5
J Palman, J May, C Pilkington
BACKGROUND: Macrophage activation syndrome is described as a "clinical syndrome of hyperinflammation resulting in an uncontrolled and ineffective immune response" in the context of an autoinflammatory or rheumatic disease. Current associations of macrophage activation syndrome with autoimmune disease most notably include a host of rheumatological conditions and inflammatory bowel disease. Epidemiological studies have shown that macrophage activation syndrome is precipitated by autoimmune disease more commonly than previously thought...
December 9, 2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27934692/in-the-midst-of-life-cell-death-what-is-it-what-is-it-good-for-and-how-to-study-it
#6
John Silke, Ricky W Johnstone
Cell death, one of the most fundamental biological processes, has not made it into the public consciousness in the same way that genetic inheritance, cell division, or DNA replication has. Everyone knows they get their genes from their parents, but few would be aware that even before they were born a lot of essential cell death has shaped their development. The greater population, for the most part, is blissfully unaware that every day millions of their own cells die in a programmed way and that this is essential for normal human physiology-their well-being, in fact...
December 1, 2016: Cold Spring Harbor Protocols
https://www.readbyqxmd.com/read/27917401/aao-autoimmune-and-autoinflammatory-disease-in-otology-what-is-new-in-immune-mediated-hearing-loss
#7
REVIEW
Andrea Vambutas, Shresh Pathak
OBJECTIVES: Autoinflammatory diseases are a family of immune-mediated, rare diseases, some of which, exhibit sensorineural hearing loss (SNHL), suggesting potentially similar mechanisms of molecular pathogenesis between autoinflammatory-mediated hearing loss and autoimmune inner ear disease (AIED) may exist. The purpose of this review is to compare the clinical features of autoimmune and autoinflammatory diseases that affect hearing, discuss the limitations of our knowledge, and highlight potential new disease mechanisms and therapeutics...
October 2016: Laryngoscope Investigative Otolaryngology
https://www.readbyqxmd.com/read/27873163/an-update-on-the-use-of-immunomodulators-in-primary-immunodeficiencies
#8
REVIEW
Pandiarajan Vignesh, Amit Rawat, Surjit Singh
The genomic revolution in the past decade fuelled by breathtaking advances in sequencing technologies has defined several new genetic diseases of the immune system. Many of these newly characterized diseases are a result of defects in genes involved in immune regulation. The discovery of these diseases has opened a vista of new therapeutic possibilities. Immunomodulatory agents, a hitherto unexplored therapeutic option in primary immunodeficiency diseases have been tried in a host of these newly described maladies...
November 21, 2016: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/27864522/comorbidity-between-central-disorders-of-hypersomnolence-and-immune-based-disorders
#9
Lucie Barateau, Régis Lopez, Isabelle Arnulf, Michel Lecendreux, Patricia Franco, Xavier Drouot, Smaranda Leu-Semenescu, Isabelle Jaussent, Yves Dauvilliers
OBJECTIVE: To assess and compare the frequencies of personal and family history of autoimmune diseases (AID), autoinflammatory disorders (ID), and allergies in a population of patients, adults and children, with narcolepsy type 1 (NT1), narcolepsy type 2 (NT2), and idiopathic hypersomnia (IH), 3 central hypersomnia disorders, and healthy controls. METHODS: Personal and family history of AID, ID, and allergies were assessed by questionnaire and medical interview in a large cohort of 450 consecutive adult patients (206 NT1, 106 NT2, 138 IH) and 95 pediatric patients (80 NT1) diagnosed according to the third International Classification of Sleep Disorders criteria in national reference centers for narcolepsy in France and 751 controls (700 adults, 51 children) from the general population...
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27828627/inflammasomes-and-dermatology
#10
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
#11
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/27791958/one-year-in-review-2016-beh%C3%A3-et-s-syndrome
#12
REVIEW
Gulen Hatemi, Emire Seyahi, Izzet Fresko, Rosaria Talarico, Vedat Hamuryudan
Several articles highlighting the epidemiology, pathogenesis, clinical features, treatment modalities and disease assessment of Behçet's syndrome (BS) have been published during the last year. Clinical and radiological features of lower extremity deep vein thrombosis due to BS can be quite different than those found in thrombosis due to other causes; additionally, frequency of post-thrombotic syndrome is significantly increased in BS. Some clinical and colonoscopic features are useful in differentiating BS from Crohn's disease...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27791949/demographic-clinical-and-therapeutic-findings-in-a-monocentric-cohort-of-adult-patients-with-suspected-pfapa-syndrome
#13
Antonio Vitale, Ida Orlando, Giuseppe Lopalco, Giacomo Emmi, Marco Cattalini, Bruno Frediani, Mauro Galeazzi, Florenzo Iannone, Donato Rigante, Luca Cantarini
OBJECTIVES: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome is a non-Mendelian autoinflammatory disorder until now considered to be specifically limited to paediatric age. Recently, an increasing number of reports seems to suggest that PFAPA syndrome, diagnosed by the Marshall criteria revised by Thomas et al., can also affect adults. METHODS: The Marshall/Thomas criteria have been applied to 989 adult patients presenting for recurrent fever episodes: all patients enrolled were reviewed for demographic, clinical, and therapeutic data...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27755185/anticytokine-autoantibodies-in-infection-and-inflammation-an-update
#14
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/27755121/vasculitis-in-the-autoinflammatory-diseases
#15
Hagit Peleg, Eldad Ben-Chetrit
PURPOSE OF REVIEW: This article addresses the prevalence and relationship between autoinflammatory diseases and vasculitis. RECENT FINDINGS: Autoimmune diseases (AIDs) are a group of syndromes characterized by episodes of unprovoked inflammation due to dysregulation of the innate immune system. Despite the common occurrence of rashes and other skin lesions in these diseases, vasculitis is reported in only a few. On the other hand, neutrophilic dermatoses are more prevalent...
January 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27723901/neutrophil-extracellular-traps-in-health-and-disease
#16
Paul Hasler, Stavros Giaglis, Sinuhe Hahn
Polymorphonuclear neutrophil granulocytes are the first responders of the immune system to threats by invading microorganisms. In the traditional view, they combat the intruders by phagocytosis and externalisation of granules containing lytic and microbicidal factors. A dozen years ago, this concept was expanded by the observation that neutrophils may react to bacteria by extruding their nuclear chromosomal DNA with attached nuclear and cytoplasmic constituents to form extracellular reticular structures. Since they trapped and immobilised the microbes, they were designated neutrophil extracellular traps (NETs), and their ensuing cell death NETosis...
2016: Swiss Medical Weekly
https://www.readbyqxmd.com/read/27682255/the-burgeoning-field-of-innate-immune-mediated-disease-and-autoinflammation
#17
REVIEW
Daniel Peckham, Thomas Scambler, Sinisa Savic, Michael F McDermott
Immune-mediated autoinflammatory diseases are occupying an increasingly prominent position among the pantheon of debilitating conditions that afflict humankind. This review focuses on some of the key developments that have occurred since the original description of autoinflammatory disease in 1999, and focuses on underlying mechanisms that trigger autoinflammation. The monogenic autoinflammatory disease range has expanded considerably during that time, and now includes a broad spectrum of disorders, including relatively common conditions such as cystic fibrosis and subsets of systemic lupus erythematosus...
January 2017: Journal of Pathology
https://www.readbyqxmd.com/read/27678529/insights-from-mendelian-interferonopathies-comparison-of-candle-savi-with-ags-monogenic-lupus
#18
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/27646526/autoinflammatory-diseases-update-on-classification-diagnosis-and-management
#19
REVIEW
Shelly Pathak, Michael F McDermott, Sinisa Savic
The spectrum of systemic autoinflammatory disorders broadens continually. In part, this is due to the more widespread application of massive parallel sequencing, helping with novel gene discovery in this and other areas of rare diseases. Some of the conditions that have been described fit neatly into a conventional idea of autoinflammation. Others, such as interferon-mediated autoinflammatory diseases, are broadening the concept which we consider to be autoinflammatory disorders. There is also a widening of the clinical phenotypes associated with certain genetic mutations, as genetic testing is used more regularly and increasing numbers of patients are screened...
January 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27586797/autophagy-nlrp3-inflammasome-and-auto-inflammatory-immune-diseases
#20
REVIEW
Zhenyu Zhong, Elsa Sanchez-Lopez, Michael Karin
Loss of homeostasis, as a result of pathogen invasion or self imbalance, causes tissue damage and inflammation. In addition to its well-established role in promoting clearance of pathogens or cell corpses, inflammation is also key to drive tissue repair and regeneration. Conserved from flies to humans, a transient, well-balanced inflammatory response is critical for restoration of tissue homeostasis after damage. The absence of such a response can result in failure of tissue repair, leading to the development of devastating immunopathologies and degenerative diseases...
July 2016: Clinical and Experimental Rheumatology
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