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Autoimmunity in autoinflammatory disease

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https://www.readbyqxmd.com/read/29904899/use-of-interleukin-1-blockers-in-pericardial-and-cardiovascular-diseases
#1
REVIEW
Giacomo Emmi, Maria Letizia Urban, Massimo Imazio, Marco Gattorno, Silvia Maestroni, Giuseppe Lopalco, Luca Cantarini, Domenico Prisco, Antonio Brucato
PURPOSE OF REVIEW: This review aims to summarize the role of the interleukin-1 (IL-1) blocking agents in cardiovascular diseases, briefly describing the pathogenetic rationale and the most relevant clinical studies. RECENT FINDINGS: IL-1 is a pivotal cytokine of the innate immune system. Anti-IL-1 agents are currently used for the treatment of several autoimmune and autoinflammatory conditions. Recently, the role of IL-1 has also emerged in cardiovascular diseases...
June 14, 2018: Current Cardiology Reports
https://www.readbyqxmd.com/read/29889692/spondyloarthritis-new-insights-into-clinical-aspects-translational-immunology-and-therapeutics
#2
Charlie Bridgewood, Abdulla Watad, Richard J Cuthbert, Dennis McGonagle
PURPOSE OF REVIEW: The spondyloarthopathies (SpA), which encompass related diseases that were originally viewed as autoimmune, are now known to have a strong innate immune or autoinflammatory initiation phase characterized by disease localization to tissue-specific sites based on the nuances and microanatomy and immunology of those sites. This review covers recent translational advances in the field of SpA. RECENT FINDINGS: Imaging studies in SpA continue to add support for the pivotal role of enthesitis in disease initiation and expression...
June 9, 2018: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29869008/novel-insights-into-the-role-of-inflammasomes-in-autoimmune-and-metabolic-rheumatic-diseases
#3
REVIEW
Kleopatra Deuteraiou, George Kitas, Alexandros Garyfallos, Theodoros Dimitroulas
Inflammasomes are large intracellular complexes that induce inflammation in response to exogenous and endogenous damage signals. They regulate production and release of the proinflammatory cytokines IL-1β and IL-18, playing a defensive role against infections. Inflammasomes have also been involved in the pathogenesis of a wide range of autoinflammatory conditions that are caused by dysregulation of the IL-1 pathway, such as cryopyrinopathies and hereditary periodic fever syndromes. On top of that, research in recent years suggests that defects in inflammasome regulation and signaling associate with a number of autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis and others...
June 4, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29868015/posttranslational-regulation-of-the-nlr-family-pyrin-domain-containing-3-inflammasome
#4
REVIEW
Do-Wan Shim, Kwang-Ho Lee
The NOD-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome is a multi-protein complex that can be activated by a variety of pathogen-associated molecular patterns or damage-associated molecular patterns. Inappropriate NLRP3 inflammasome activation can induce autoinflammatory, autoimmune, or metabolic disorders. Therefore, NLRP3 is an attractive target against NLRP3 inflammasome activation, and specific targeting of NLRP3 might be an intriguing approach to the development of drugs for the treatment of NLRP3 inflammasome-related diseases...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29860882/-primary-immunodeficiency-and-autoimmune-diseases
#5
Györgyi Műzes, Ferenc Sipos
Primary immunodeficiencies consist of a group of genetically heterogeneous immune disorders affecting distinct elements of the innate and adaptive immune system. Patients with primary immunodeficiency are more prone to develop not only recurrent infections, but non-infectious complications, like inflammatory or granulomatous conditions, lymphoproliferative and solid malignancies, autoinflammatory disorders, and a broad spectrum of autoimmune diseases. The concomitant appearance of primary immunodeficiency and autoimmunity appears to be rather paradoxical, therefore making the diagnosis of immunodeficiency patients with autoimmune complications challenging...
June 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29848367/transcription-factor-motif-enrichment-in-whole-transcriptome-analysis-identifies-stat4-and-bcl6-as-the-most-prominent-binding-motif-in-systemic-juvenile-idiopathic-arthritis
#6
Boris Hügle, Anastasia Schippers, Nadine Fischer, Kim Ohl, Bernd Denecke, Fabio Ticconi, Bas Vastert, Ivan G Costa, Johannes-Peter Haas, Klaus Tenbrock
BACKGROUND: The term systemic juvenile idiopathic arthritis (sJIA) describes an autoinflammatory condition characterized by arthritis and severe systemic inflammation, which in later stages can transform into interleukin (IL)-17-driven autoimmune arthritis. IL-1 antagonists have been used with good efficacy in the early stages of sJIA. METHODS: A whole transcriptome analysis of peripheral blood RNA samples was performed in six patients with sJIA and active systemic disease, before initiating treatment with the IL-1β receptor antagonist anakinra, and after induction of inactive disease, compared with a single-sample control cohort of 21 patients in several clinical stages of sJIA activity...
May 30, 2018: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/29846841/an-update-on-autoinflammatory-diseases-relopathies
#7
REVIEW
Annemarie Steiner, Cassandra R Harapas, Seth L Masters, Sophia Davidson
PURPOSE OF REVIEW: The nuclear factor κB (NF-κB) pathway is tightly regulated through multiple posttranslational mechanisms including ubiquitination. Mutations in these regulatory pathways can cause disease and are the focus of this review. RECENT FINDINGS: The linear ubiquitin chain assembly complex (LUBAC) is a trimer made up of HOIL-1L, SHARPIN, and the catalytic subunit HOIP. Loss of function mutations in HOIL-1L and HOIP result in largely overlapping phenotypes, characterized by multi-organ autoinflammation, immunodeficiency, and amylopectinosis...
May 30, 2018: Current Rheumatology Reports
https://www.readbyqxmd.com/read/29805043/heterozygous-truncating-variants-in-pomp-escape-nonsense-mediated-decay-and-cause-a-unique-immune-dysregulatory-syndrome
#8
M Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Ivan K Chinn, Emily M Mace, Tiphanie P Vogel, Alexandre F Carisey, Felipe Benavides, Zeynep H Coban-Akdemir, Richard A Gibbs, Shalini N Jhangiani, Donna M Muzny, Claudia M B Carvalho, Deborah A Schady, Mahim Jain, Jill A Rosenfeld, Lisa Emrick, Richard A Lewis, Brendan Lee, Barbara A Zieba, Sébastien Küry, Elke Krüger, James R Lupski, Bret L Bostwick, Jordan S Orange
The proteasome processes proteins to facilitate immune recognition and host defense. When inherently defective, it can lead to aberrant immunity resulting in a dysregulated response that can cause autoimmunity and/or autoinflammation. Biallelic or digenic loss-of-function variants in some of the proteasome subunits have been described as causing a primary immunodeficiency disease that manifests as a severe dysregulatory syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE)...
May 22, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29788367/infantile-onset-intractable-inflammatory-bowel-disease-due-to-novel-heterozygous-mutations-in-tnfaip3-a20
#9
Cuifang Zheng, Ying Huang, Ziqing Ye, Yuhuan Wang, Zifei Tang, Junping Lu, Jie Wu, Ying Zhou, Lin Wang, Zhiheng Huang, Haowei Yang, Aijuan Xue
Background : Mutations in tumor necrosis factor alpha-induced protein 3 (TNFAIP3), a key player in the negative feedback regulation of nuclear factor-κB signaling, have recently been recognized as leading to early onset autoinflammatory and autoimmune syndrome. Here, we have reported the phenotypes of 3 infantile onset intractable inflammatory bowel disease (IBD) patients with TNFAIP3 mutations and reviewed previously reported cases to establish phenotypic features associated with TNFAIP3 monogenicity...
May 17, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29742053/updated-overview-of-molecular-pathways-involved-in-the-most-common-monogenic-autoinflammatory-diseases
#10
REVIEW
Orso Maria Lucherini, Donato Rigante, Jurgen Sota, Claudia Fabiani, Laura Obici, Marco Cattalini, Marco Gattorno, Luca Cantarini
An apparently unprovoked recurrent inflammation is the quintessential hallmark of autoinflammatory diseases (AIDs), a large and heterogeneous group of disorders in which there is poor regulation of the innate immune system with no clearly demonstrated autoimmune machinery involvement. Innate immunity pathways are diverse and our understanding of their molecular composition and function is continuously expanding. The impaired immune responses we observe in monogenic AIDs, mostly in the hereditary periodic fever syndromes, is officiated by target molecules of microbial origin (pathogen-associated molecular patterns) and also host molecules (danger-associated molecular patterns)...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29732488/coronary-flow-reserve-in-systemic-rheumatic-diseases-a-systematic-review-and-meta-analysis
#11
REVIEW
Gian Luca Erre, Giorgio Buscetta, Panagiotis Paliogiannis, Arduino Aleksander Mangoni, Ciriaco Carru, Giuseppe Passiu, Angelo Zinellu
Coronary flow reserve (CFR), a measure of both obstructive coronary artery disease and microvascular dysfunction, has been evaluated in systemic rheumatic diseases (RDs), but a comprehensive critical appraisal of the available evidence is lacking. The objective of this study is to conduct a systematic review and meta-analysis of studies with small sample size investigating the associations between the presence of RDs and CFR to increase statistical power and accuracy. PubMed, Web of Science, Scopus, and Google Scholar, from inception to March 2018, were searched for studies reporting on CFR in RDs in comparison to healthy subjects...
May 7, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29723363/macrophage-migration-inhibitory-factor-as-an-incriminating-agent-in-vitiligo
#12
Azza Gaber Antar Farag, Mostafa Ahmed Hammam, Mona SalahEldeen Habib, Nada Farag Elnaidany, Mona Eaid Kamh
BACKGROUND: Vitiligo is an autoimmune skin disorder in which the loss of melanocytes is mainly attributed to defective autoimmune mechanisms and, lately, there has been more emphasis on autoinflammatory mediators. Among these is the macrophage migration inhibitory factor, which is involved in many autoimmune skin diseases. However, little is known about the contribution of this factor to vitiligo vulgaris. OBJECTIVE: To determine the hypothesized role of migration inhibitory factor in vitiligo via estimation of serum migration inhibitory factor levels and migration inhibitory factor mRNA concentrations in patients with vitiligo compared with healthy controls...
March 2018: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29696024/cutaneous-vasculitis-and-recurrent-infection-caused-by-deficiency-in-complement-factor-i
#13
Sira Nanthapisal, Despina Eleftheriou, Kimberly Gilmour, Valentina Leone, Radhika Ramnath, Ebun Omoyinmi, Ying Hong, Nigel Klein, Paul A Brogan
Cutaneous leukocytoclastic vasculitis arises from immune complex deposition and dysregulated complement activation in small blood vessels. There are many causes, including dysregulated host response to infection, drug reactions, and various autoimmune conditions. It is increasingly recognised that some monogenic autoinflammatory diseases cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of consanguineous parents who presented with chronic cutaneous leukocytoclastic vasculitis, recurrent upper respiratory tract infection, and hypocomplementaemia...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29682404/possible-association-of-multicentric-castleman-s-disease-with-autoimmune-lymphoproliferative-syndrome
#14
REVIEW
Hiroyuki Minemura, Yoshinori Tanino, Kazuhiko Ikeda
Multicentric Castleman's disease (MCD) is lymphoproliferative disorder characterized by systemic inflammatory symptoms such as fever and weight loss. Human herpes virus-8 (HHV-8) is thought to be a causable pathogen in all HIV-positive and some HIV-negative MCD patients. Furthermore, the term idiopathic MCD (iMCD) was recently proposed to represent a group of HIV-negative and HHV-8-negative patients with unknown etiologies. Although the international diagnostic criteria for iMCD require exclusion of infection-related disorders, autoimmune/autoinflammatory diseases and malignant/lymphoproliferative disorders to make an iMCD diagnosis, the relationships and differences between these disorders and MCD have not yet been clarified...
2018: BioResearch Open Access
https://www.readbyqxmd.com/read/29589639/oral-manifestations-of-autoinflammatory-and-autoimmune-diseases
#15
Špela Baglama, Katarina Trčko, Janez Rebol, Jovan Miljković
Autoimmune diseases may also be reflected in changes in the oral cavity that represent the first sign of the disease, or they may occur simultaneously with or later in the course of the disease. Oral findings are mostly non-specific, and therefore further investigations are needed to exclude or confirm possible diagnoses. This article presents the most important diseases in this research area, divides them into meaningful groups, and highlights the importance of examining the oral cavity for possible manifestations...
March 2018: Acta Dermatovenerologica Alpina, Panonica, et Adriatica
https://www.readbyqxmd.com/read/29574969/neutrophilic-urticarial-dermatosis-as-a-presenting-feature-of-systemic-juvenile-idiopathic-arthritis
#16
Thomas Stringer, Julia Gittler, Shane Meehan, Philip Kahn, Vikash S Oza
This report describes a case of chronic neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis. When encountered in children, neutrophilic urticarial dermatosis should raise suspicion of autoimmune or autoinflammatory disease.
May 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29556237/regulation-of-cytokine-production-by-the-unfolded-protein-response-implications-for-infection-and-autoimmunity
#17
REVIEW
Judith A Smith
Protein folding in the endoplasmic reticulum (ER) is an essential cell function. To safeguard this process in the face of environmental threats and internal stressors, cells mount an evolutionarily conserved response known as the unfolded protein response (UPR). Invading pathogens induce cellular stress that impacts protein folding, thus the UPR is well situated to sense danger and contribute to immune responses. Cytokines (inflammatory cytokines and interferons) critically mediate host defense against pathogens, but when aberrantly produced, may also drive pathologic inflammation...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29515591/the-potential-role-of-trained-immunity-in-autoimmune-and-autoinflammatory-disorders
#18
REVIEW
Rob J W Arts, Leo A B Joosten, Mihai G Netea
During induction of trained immunity, monocytes and macrophages undergo a functional and transcriptional reprogramming toward increased activation. Important rewiring of cellular metabolism of the myeloid cells takes place during induction of trained immunity, including a shift toward glycolysis induced through the mTOR pathway, as well as glutaminolysis and cholesterol synthesis. Subsequently, this leads to modulation of the function of epigenetic enzymes, resulting in important changes in chromatin architecture that enables increased gene transcription...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29515565/a20-tumor-necrosis-factor-%C3%AE-induced-protein-3-in-immune-cells-controls-development-of-autoinflammation-and-autoimmunity-lessons-from-mouse-models
#19
REVIEW
Tridib Das, Zhongli Chen, Rudi W Hendriks, Mirjam Kool
Immune cell activation is a stringently regulated process, as exaggerated innate and adaptive immune responses can lead to autoinflammatory and autoimmune diseases. Perhaps the best-characterized molecular pathway promoting cell activation is the nuclear factor-κB (NF-κB) signaling pathway. Stimulation of this pathway leads to transcription of numerous pro-inflammatory and cell-survival genes. Several mechanisms tightly control NF-κB activity, including the key regulatory zinc finger (de)ubiquitinating enzyme A20/tumor necrosis factor α-induced protein 3 (TNFAIP3)...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29447637/crohn-disease-associated-neutrophilic-urticarial-dermatosis-report-and-literature-review-of-neutrophilic-urticarial-dermatosis
#20
REVIEW
Zhe Hou, Brian R Hinds, Philip R Cohen
Neutrophilic urticarial dermatosis (NUD) is a useful diagnostic term for urticarial lesions that are less pruritic and more painful than conventional urticaria. The histopathologic features include neutrophilic infiltrates in the interstitial dermis with a higher density than idiopathic urticaria. NUD has been associated with several systemic conditions, which are predominantly autoimmune and autoinflammatory in nature. A woman with Crohn disease who developed NUD is described. Literature reports of other conditions in which neutrophilic urticarial dermatosis have been observed are also reviewed and summarized...
November 15, 2017: Dermatology Online Journal
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