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https://www.readbyqxmd.com/read/28928270/the-evolving-role-of-the-rheumatologist-in-the-management-of-immune-related-adverse-events-iraes-caused-by-cancer-immunotherapy
#1
EDITORIAL
Leonard Calabrese, Xavier Mariette
The rapid introduction of immunotherapies for cancer-targeting immunological checkpoints has led to a new class of toxicities that appear to be of autoimmune and or autoinflammatory origin. These disorders are now referred to as immune-related adverse events (irAEs) and pose considerable challenges to patient care in terms of how to optimally manage these formidable toxicities while allowing effective antitumoural therapy to continue. While rheumatologists will naturally be called on to manage those irAEs of rheumatic origin, we believe there is a need and an opportunity for rheumatologists to participate as central figures in this evolving field, in large part because of our familiarity with multiorgan autoimmune disease and our expertise in crafting and utilising both traditional and biological immune-based therapies...
September 19, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28926322/vitamin-d-status-serum-lipid-concentrations-and-vitamin-d-receptor-vdr-gene-polymorphisms-in-familial-mediterranean-fever
#2
Turan Turhan, Halef Okan Doğan, Nihal Boğdaycioğlu, Nilnur Eyerci, Ahmet Omma, İsmail Sari, Ahmet Yeşilyurt, Yaşar Karaaslan
Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls. A total of 38 patients were in acute attacks at the time of investigation...
September 18, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28923673/monogenic-autoinflammatory-diseases-general-concepts-and-presentation-in-adult-patients
#3
REVIEW
José Hernández-Rodríguez, Estíbaliz Ruiz-Ortiz, Jordi Yagüe
Monogenic autoinflammatory diseases (AIFD) are rare disorders characterized by an uncontrolled increase of the systemic inflammatory response, which is caused by mutations in genes involved in inflammatory pathways. Over the last few years, new genes and proteins responsible for new monogenic AIFD have been identified and a substantial improvement in their treatment has been achieved. Monogenic AIFD manifestations typically begin during childhood, but they can also occur in adults. Compared to pediatric patients, adults usually present with a less severe disease and fewer long-term complications...
September 15, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28916023/beh%C3%A3-et-disease-new-aspects
#4
Isil Bulur, Meltem Onder
Behçet disease is currently considered an "autoinflammatory disease" triggered by infection and environmental factors in genetically predisposed individuals. Although the disease is characterized by recurrent oral and genital aphthous ulcers and ocular involvement, it can affect multiple organ systems. Complex aphthosis is characterized by recurrent oral and/or genital aphthous ulcers. It is important to evaluate the patient with complex aphthosis for Behçet disease and related systemic disorders. We discuss the etiopathogenesis, clinical features, diagnostic criteria, and treatment approaches for complex aphthosis and Behçet disease in light of the current literature...
September 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28902840/maternal-gut-bacteria-promote-neurodevelopmental-abnormalities-in-mouse-offspring
#5
Sangdoo Kim, Hyunju Kim, Yeong Shin Yim, Soyoung Ha, Koji Atarashi, Tze Guan Tan, Randy S Longman, Kenya Honda, Dan R Littman, Gloria B Choi, Jun R Huh
Maternal immune activation (MIA) contributes to behavioural abnormalities associated with neurodevelopmental disorders in both primate and rodent offspring. In humans, epidemiological studies suggest that exposure of fetuses to maternal inflammation increases the likelihood of developing autism spectrum disorder. In pregnant mice, interleukin-17a (IL-17a) produced by T helper 17 (TH17) cells (CD4(+) T helper effector cells involved in multiple inflammatory conditions) induces behavioural and cortical abnormalities in the offspring exposed to MIA...
September 13, 2017: Nature
https://www.readbyqxmd.com/read/28888842/evidence-refuting-the-existence-of-autoimmune-autoinflammatory-syndrome-induced%C3%A2-by-adjuvants-asia
#6
Rohan Ameratunga, David Gillis, Michael Gold, Allan Linneberg, J Mark Elwood
Autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA) was described in 2011. Over time the condition and its triggers have broadened to include several autoimmune disorders, the macrophagic myofasciitis syndrome, the Gulf war syndrome, the sick building syndrome, siliconosis, and the chronic fatigue syndrome. The aluminum-containing adjuvants in the hepatitis B vaccine and the human papillomavirus vaccine in particular have been stated to be the major causes of the disorder. Here, we review the specificity of the diagnostic criteria for ASIA...
September 6, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28866302/hemophagocytic-syndrome-primary-forms-and-predisposing-conditions
#7
REVIEW
Fernando E Sepulveda, Geneviève de Saint Basile
Hemophagocytic lymphohistiocytosis (HLH, also referred to a hemophagocytic syndrome) is a life-threatening condition in which uncontrolled activation of lymphocytes and macrophages, and thus the secretion of large amounts of inflammatory cytokines, leads to a severe hyperinflammatory state. Over the last few decades, researchers have characterized primary forms of HLH caused by genetic defects that impair lymphocytes' cytotoxic machinery. Other genetic causes of HLH not related to impaired cytotoxicity have also recently been identified...
August 31, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28830446/autoimmune-phenotype-with-type-i-interferon-signature-in-two-brothers-with-ada2-deficiency-carrying-a-novel-cecr1-mutation
#8
Andrea Skrabl-Baumgartner, Barbara Plecko, Wolfgang M Schmidt, Nadja König, Michael Hershfield, Ursula Gruber-Sedlmayr, Min Ae Lee-Kirsch
BACKGROUND: Loss-of-function CECR1 mutations cause polyarteritis nodosa (PAN) with childhood onset, an autoinflammatory disorder without significant signs of autoimmunity. Herein we describe the unusual presentation of an autoimmune phenotype with constitutive type I interferon activation in siblings with adenosine deaminase 2 (ADA2) deficiency. CASE PRESENTATION: We describe two siblings with early-onset recurrent strokes, arthritis, oral ulcers, discoid rash, peripheral vascular occlusive disease and high antinuclear antibody titers...
August 22, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28814775/mutational-profile-of-rare-variants-in-inflammasome-related-genes-in-beh%C3%A3-et-disease-a-next-generation-sequencing-approach
#9
Sergio Burillo-Sanz, Marco-Antonio Montes-Cano, José-Raúl García-Lozano, Lourdes Ortiz-Fernández, Norberto Ortego-Centeno, Francisco-José García-Hernández, Gerard Espinosa, Genaro Graña-Gil, Juan Sánchez-Bursón, María Rosa Juliá, Roser Solans, Ricardo Blanco, Ana-Celia Barnosi-Marín, Ricardo Gómez De la Torre, Patricia Fanlo, Mónica Rodríguez-Carballeira, Luis Rodríguez-Rodríguez, Teresa Camps, Santos Castañeda, Juan-Jose Alegre-Sancho, Javier Martín, María Francisca González-Escribano
Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28798075/cytokines-of-the-il-1-family-recognized-targets-in-chronic-inflammation-underrated-in-organ-transplantations
#10
REVIEW
Ilja Striz
Interleukin 1 (IL-1) family is a group of cytokines with multiple local and systemic effects, which regulates both innate and adaptive immune responses. Generally, most IL-1 family cytokines express prevailing pro-inflammatory activities (IL-1α, IL-1β, IL-18, IL-33, IL-36 α, β, γ), whereas others are anti-inflammatory (IL-1Ra (IL-1 receptor antagonist), IL-36Ra, IL-38, IL-37). In addition to their immunomodulatory roles, some of them are also involved in the physiological modulation of homeostatic processes and directly affect mRNA transcription...
September 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28794369/adult-onset-chronic-recurrent-multifocal-osteomyelitis-with-high-intensity-of-muscles-detected-by-magnetic-resonance-imaging-successfully-controlled-with-tocilizumab
#11
Hiroe Sato, Yoko Wada, Eriko Hasegawa, Yukiko Nozawa, Takeshi Nakatsue, Tomoyuki Ito, Takeshi Kuroda, Takako Saeki, Hajime Umezu, Yoshiki Suzuki, Masaaki Nakano, Ichiei Narita
Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disorder that generally occurs in children and predominantly affects the long bones with marginal sclerosis. We herein report two cases of adult-onset CRMO involving the tibial diaphysis bilaterally, accompanied by polyarthritis. Magnetic resonance imaging (MRI) showed both tibial osteomyelitis and high intensity of the extensive lower leg muscles. Anti-interleukin-6 therapy with tocilizumab (TCZ) effectively controlled symptoms and inflammatory markers in both patients...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28790368/signs-of-innate-immune-activation-and-premature-immunosenescence-in-psoriasis-patients
#12
Liisi Šahmatova, Elena Sügis, Marina Šunina, Helen Hermann, Ele Prans, Maire Pihlap, Kristi Abram, Ana Rebane, Hedi Peterson, Pärt Peterson, Külli Kingo, Kai Kisand
Psoriasis is a chronic inflammatory disease that affects skin and is associated with systemic inflammation and many serious comorbidities ranging from metabolic syndrome to cancer. Important discoveries about psoriasis pathogenesis have enabled the development of effective biological treatments blocking the T helper 17 pathway. However, it has not been settled whether psoriasis is a T cell-mediated autoimmune disease or an autoinflammatory disorder that is driven by exaggerated innate immune signalling. Our comparative gene expression and hierarchical cluster analysis reveal important gene circuits involving innate receptors...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28771701/cellular-metabolism-of-tumor-associated-macrophages-functional-impact-and-consequences
#13
REVIEW
Katrin Rabold, Mihai G Netea, Gosse J Adema, Romana T Netea-Maier
Macrophages are innate immune cells that play a role not only in host defense against infections, but also in the pathophysiology of autoimmune and autoinflammatory disorders, as well as cancer. An important feature of macrophages is their high plasticity, with high ability to adapt to environmental changes by adjusting their cellular metabolism and immunological phenotype. Macrophages are one of the most abundant innate immune cells within the tumor microenvironment that have been associated with tumor growth, metastasis, angiogenesis and poor prognosis...
August 3, 2017: FEBS Letters
https://www.readbyqxmd.com/read/28750028/clinical-impact-of-a-targeted-next-generation-sequencing-gene-panel-for-autoinflammation-and-vasculitis
#14
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
#15
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/28744167/muckle-wells-syndrome-clinical-perspectives
#16
REVIEW
Tu-Anh Tran
Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible for excessive caspase-1 activation and interleukin 1β processing. MWS is the intermediate phenotype of severity of cryopyrin-associated periodic syndrome. Urticarial rash, conjunctivitis, recurrent fever, arthralgia, and fatigue are the main clinical manifestations of MWS. Yet, sensorineural hearing loss and renal amyloidosis can occur after long term evolution. Patients' quality of life has been drastically improved with the advent of IL-1 inhibitors...
2017: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/28738408/cgas-surveillance-of-micronuclei-links-genome-instability-to-innate-immunity
#17
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...
July 24, 2017: Nature
https://www.readbyqxmd.com/read/28722725/the-monogenic-autoinflammatory-diseases-define-new-pathways-in-human-innate-immunity-and-inflammation
#18
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
#19
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/28694138/does-type-i-interferon-drive-systemic-autoimmunity
#20
REVIEW
Cécile Picard, Alexandre Belot
Type-I interferon (IFN)-mediated immune response involves both innate and adaptive immune system and has a pivotal role in antiviral defence. A complex interplay of intracellular signaling pathways and tight regulatory systems drive the IFN activation. The observation of an aberrant stimulation of this system as a common molecular basis in peculiar inherited autoimmune and autoinflammatory disorders led to the concept of "type I interferonopathies". But the precise genetic dissection of this growing spectrum of diseases adds more and more complexity to the comprehension of this concept and a lot of unsolved questions remain such as how type I IFN can drive systemic inflammation in these clinically and genetically heterogeneous diseases...
July 8, 2017: Autoimmunity Reviews
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