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Autoinflammatory diseases

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https://www.readbyqxmd.com/read/28098378/expanding-the-skin-and-histopathology-manifestations-of-autoinflammatory-diseases
#1
A Barzilai, A D Cohen
No abstract text is available yet for this article.
January 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28094164/disorders-characterized-by-predominant-or-exclusive-dermal-inflammation
#2
Mark R Wick
Some cutaneous inflammatory disorders are typified by a predominant or exclusive localization in the dermis. They can be further subdivided by the principal cell types into lymphocytic, neutrophilic, and eosinophilic infiltrates, and mixtures of them are also seen in a proportion of cases. This review considers such conditions. Included among the lymphoid lesions are viral exanthems, pigmented purpuras, gyrate erythemas, polymorphous light eruption, lupus tumidus, and cutaneous lymphoid hyperplasia. Neutrophilic infiltrates are represented by infections, Sweet syndrome, pyoderma gangrenosum, and hidradenitis suppurativa, as well as a group of so-called "autoinflammatory" dermatitides comprising polymorphonuclear leukocytes...
December 14, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28090320/immunopathogenesis-of-granulomas-in-chronic-autoinflammatory-diseases
#3
REVIEW
Wilhelmina Maria Cornelia Timmermans, Jan Alexander Michael van Laar, Petrus Martinus van Hagen, Menno Cornelis van Zelm
Granulomas are clusters of immune cells. These structures can be formed in reaction to infection and display signs of necrosis, such as in tuberculosis. Alternatively, in several immune disorders, such as sarcoidosis, Crohn's disease and common variable immunodeficiency, non-caseating granulomas are formed without an obvious infectious trigger. Despite advances in our understanding of the human immune system, the pathogenesis underlying these non-caseating granulomas in chronic inflammatory diseases is still poorly understood...
December 2016: Clinical & Translational Immunology
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
#4
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/28032234/the-emerging-role-of-interleukin-il-1-in-the-pathogenesis-and-treatment-of-inflammatory-and-degenerative-eye-diseases
#5
Claudia Fabiani, Jurgen Sota, Gian Marco Tosi, Rossella Franceschini, Bruno Frediani, Mauro Galeazzi, Donato Rigante, Luca Cantarini
Interleukin (IL)-1 plays a key role in the pathogenesis and thereafter in the search for specific treatments of different inflammatory and degenerative eye diseases. Indeed, an overactivity of IL-1 might be an initiating factor for many immunopathologic sceneries in the eye, as proven by the efficacy of the specific IL-1 blockade in different ocular diseases. For instance, the uveitis in monogenic autoinflammatory disorders, such as Blau syndrome and cryopyrin-associated periodic syndrome, or in complex polygenic autoinflammatory disorders, such as Behçet's disease, has been successfully treated with IL-1 blockers...
December 28, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/28029407/management-of-chronic-spontaneous-urticaria-in-routine-clinical-practice-a-delphi-method-questionnaire-among-specialists-to-test-agreement-with-current-european-guidelines-statements
#6
A Giménez-Arnau, M Ferrer, J Bartra, I Jáuregui, M Labrador-Horrillo, J Ortiz de Frutos, J F Silvestre, J Sastre, M Velasco, A Valero
BACKGROUND: Chronic spontaneous urticaria (CSU) is a frequent clinical entity that often presents a diagnostic and therapeutic challenge. OBJECTIVE: To explore the degree of agreement that exists among the experts caring for patients with CSU diagnosis, evaluation, and management. METHODS: An online survey was conducted to explore the opinions of experts in CSU, address controversial issues, and provide recommendations regarding its definition, natural history, diagnosis, and treatment...
October 28, 2016: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28028683/muckle-wells-syndrome-in-chinese-patients-a-single-center-case-series
#7
REVIEW
Di Wu, Min Shen
Muckle-Wells syndrome (MWS) is a rare autoinflammatory disease. This study aimed to report the clinical features and gene variations of the first case series of MWS patients in Chinese population. Four Han Chinese patients were diagnosed with MWS and followed up at our adult clinic for autoinflammatory diseases. All relevant phenotypes and genotypes were collected. All patients were adult male. The median age of disease onset was 4.5 years, and one patient had adult-onset disease. No positive family history was observed...
December 27, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/28018446/familial-mediterranean-fever-presenting-as-fever-of-unknown-origin-in-korea
#8
Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim, Kwang Chul Lee, Joo Won Lee, Jung Hwa Lee, Jae Jin Chae
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28006777/cellular-innate-immunity-an-old-game-with-new-players
#9
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/27998728/il-1%C3%AE-and-caspase-1-drive-autoinflammatory-disease-independently-of-il-1%C3%AE-or-caspase-8-in-a-mouse-model-of-familial-mediterranean-fever
#10
Deepika Sharma, Bhesh Raj Sharma, Peter Vogel, Thirumala-Devi Kanneganti
Mutations in the gene encoding pyrin are associated with autoinflammatory disorder Familial Mediterranean Fever (FMF). A FMF-knock-in mouse strain that expresses chimeric pyrin protein with a V726A mutation (Mefv(V726A/V726A)) was generated to model human FMF. This mouse strain shows an autoinflammatory disorder that is prevented by genetic deletion of IL-1 (IL-1) receptor or apoptosis-associated speck-like protein containing a CARD (ASC). ASC-mediated cell death leads to the release of IL-1α and IL-1β, both of which signal through IL-1 receptor...
December 17, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27994174/evidence-of-digenic-inheritance-in-autoinflammation-associated-genes
#11
Vassos Neocleous, Stefania Byrou, Meropi Toumba, Constantina Costi, Christos Shammas, Christina Kyriakou, Violetta Christophidou-Anastasiadou, George A Tanteles, Adamos Hadjipanayis, Leonidas A Phylactou
Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. In the present study, an extensive search for possible mutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek-Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27994071/autoinflammatory-periodic-fever-immunodeficiency-and-thrombocytopenia-pfit-caused-by-mutation-in-actin-regulatory-gene-wdr1
#12
Ariane S I Standing, Dessislava Malinova, Ying Hong, Julien Record, Dale Moulding, Michael P Blundell, Karolin Nowak, Hannah Jones, Ebun Omoyinmi, Kimberly C Gilmour, Alan Medlar, Horia Stanescu, Robert Kleta, Glenn Anderson, Sira Nanthapisal, Sonia Melo Gomes, Nigel Klein, Despina Eleftheriou, Adrian J Thrasher, Paul A Brogan
The importance of actin dynamics in the activation of the inflammasome is becoming increasingly apparent. IL-1β, which is activated by the inflammasome, is known to be central to the pathogenesis of many monogenic autoinflammatory diseases. However, evidence from an autoinflammatory murine model indicates that IL-18, the other cytokine triggered by inflammasome activity, is important in its own right. In this model, autoinflammation was caused by mutation in the actin regulatory gene WDR1 We report a homozygous missense mutation in WDR1 in two siblings causing periodic fevers with immunodeficiency and thrombocytopenia...
January 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27990755/efficacy-of-anakinra-in-an-adult-patient-with-recurrent-pericarditis-and-cardiac-tamponade-as-initial-manifestations-of-tumor-necrosis-factor-receptor-associated-periodic-syndrome-due-to-the-r92q-tnfrsf1a-variant
#13
Daniel Camprubí, Francesca Mitjavila, Juan I Arostegui, Xavier Corbella
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory disease caused by TNFRSF1A mutations. Patients with TRAPS suffer from recurrent, long episodes with fever, arthralgia/arthritis, migratory myalgias, abdominal pain, serositis, conjunctivitis and migratory erythematous skin rash. More than 70 different TNFRSF1A mutations have been reported to date, and as consequence of its genetic heterogeneity, TRAPS shows a variable phenotypic expression. Among TNFRSF1A variants, the low-penetrance p...
December 19, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27984003/a-systematic-analysis-of-treatment-and-outcomes-of-nod2-associated-autoinflammatory-disease
#14
Qingping Yao, Bo Shen
OBJECTIVES: Yao syndrome, formerly named NOD2-associated autoinflammatory disease, is a periodic disease characterized by fever, dermatitis, polyarthritis/leg swelling, and gastrointestinal and sicca-like symptoms associated with specific NOD2 sequence variants. Our aim was to evaluate the treatment and outcomes of the disease. METHODS: A total of 52 adult patients with autoinflammatory disease phenotype were diagnosed with Yao syndrome and enrolled at the Cleveland Clinic between November 2009 and May 2015...
October 28, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#15
REVIEW
Giusyda Tarantino, Susanna Esposito, Laura Andreozzi, Benedetta Bracci, Francesca D'Errico, Donato Rigante
Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene...
December 15, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27977505/unusual-presentations-of-childhood-systemic-lupus-erythematosus-to-emergency-department
#16
Ayşe Gültekingil Keser, İlker Ertuğrul, Özlem Tekşam, Bahadir Konuşkan, Süheyla Özkutlu, Seza Özen
INTRODUCTION: Systemic lupus erythematosus (SLE) is a multisystemic autoinflammatory disease that can involve any organ system; therefore, diagnosis can be challenging. Hereby, we present 4 cases that presented to pediatric emergency department with unusual clinical pictures of SLE. CASES: Case 1 presented with inability to walk or talk for the last 1 week as well as intermittent pain and swelling in her joints. Case 2 presented with generalized edema and severe dyspnea...
December 13, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27974463/a-disease-associated-mutant-of-nlrc4-shows-enhanced-interaction-with-sug1-leading-to-constitutive-fadd-dependent-caspase-8-activation-and-cell-death
#17
Akhouri Kishore Raghawan, Anand Sripada, Gayathri Gopinath, Pendyala Pushpanjali, Yatender Kumar, Vegesna Radha, Ghanshyam Swarup
NLRC4/Ipaf is involved in recognition of pathogen-associated molecular patterns leading to caspase-1 activation and cytokine release that mediate protective innate immune response. Point mutations in NLRC4 cause autoinflammatory syndromes. Though all the mutations result in constitutive caspase-1 activation their phenotypic presentations are different implying that these mutations cause different alterations in properties of NLRC4. NLRC4 interacts with SUG1 and induces caspase-8 mediated cell death. Here, we show that one of the autoinflammatory syndromecausing mutants of NLRC4, H443P, but not T337A and V341A, constitutively activates caspase-8 and induces apoptotic cell death in human lung epithelial cells...
December 14, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27974218/an-nlrp3-mutation-causes-arthropathy-and-osteoporosis-in-humanized-mice
#18
John N Snouwaert, MyTrang Nguyen, Peter W Repenning, Rebecca Dye, Eric W Livingston, Martina Kovarova, Sheryl S Moy, Brian E Brigman, Ted A Bateman, Jenny P-Y Ting, Beverly H Koller
The NLRP3 inflammasome plays a critical role in host defense by facilitating caspase I activation and maturation of IL-1β and IL-18, whereas dysregulation of inflammasome activity results in autoinflammatory disease. Factors regulating human NLRP3 activity that contribute to the phenotypic heterogeneity of NLRP3-related diseases have largely been inferred from the study of Nlrp3 mutant mice. By generating a mouse line in which the NLRP3 locus is humanized by syntenic replacement, we show the functioning of the human NLRP3 proteins in vivo, demonstrating the ability of the human inflammasome to orchestrate immune reactions in response to innate stimuli...
December 13, 2016: Cell Reports
https://www.readbyqxmd.com/read/27965258/a-new-autoinflammatory-and-autoimmune-syndrome-associated-with-nlrp1-mutations-naiad-nlrp1-associated-autoinflammation-with-arthritis-and-dyskeratosis
#19
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
#20
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
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