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https://www.readbyqxmd.com/read/27906774/lessons-from-characterization-and-treatment-of-the-autoinflammatory-syndromes
#1
Ivona Aksentijevich, Michael F McDermott
PURPOSE OF REVIEW: The list of genes associated with systemic inflammatory diseases has been steadily growing because of the explosion of new genomic technologies. Significant advances in the past year have deepened our understanding of the molecular mechanisms linked to inflammation and elucidated insights on the efficacy of specific therapies for these and related conditions. We review the molecular pathogenesis of four recently characterized monogenic autoinflammatory diseases: haploinsufficiency of A20, otulipenia, a severe form of pyrin-associated disease, and a monogenic form of systemic juvenile idiopathic arthritis...
November 30, 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27905098/are-neutrophilic-dermatoses-autoinflammatory-disorders
#2
REVIEW
T K Satoh, M Mellett, E Contassot, L E French
Neutrophils constitute essential players in inflammatory responses and are the first line of defence against harmful stimuli. However, dysregulation of neutrophil homeostasis can result in excessive inflammation and subsequent tissue damage. Neutrophilic dermatoses are a spectrum of inflammatory disorders characterized by skin lesions resulting from a neutrophil-rich inflammatory infiltrate in the absence of infection. The exact molecular pathophysiology of neutrophilic dermatoses has long been poorly understood...
November 30, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27896634/th9-cells-in-skin-disorders
#3
REVIEW
Rachael A Clark, Christoph Schlapbach
Interleukin 9 secreting TH9 cells have been proposed as the latest addition to the family of T helper cell subsets. While a growing body of evidence from animal models points to important roles for these cells in allergic inflammation of the lung, autoinflammation of the gastrointestinal tract, and tumor immunity, their role in skin immunity and skin immunopathology remains poorly defined. Interestingly, studies of T helper cells from healthy humans suggest that TH9 cells are predominantly skin-homing and skin-resident and that they are involved in protection against extracellular pathogens...
November 28, 2016: Seminars in Immunopathology
https://www.readbyqxmd.com/read/27871068/autoinflammatory-skin-disease-a-review-of-concepts-and-applications-to-general-dermatology
#4
Aditi S Murthy, Kieron Leslie
We provide an up-to-date summary of important concepts of autoinflammation as well as describe important but rare monogenic autoinflammatory disorders that may present with cutaneous findings. Finally, of particular interest to a practicing general dermatology audience, we review concepts of autoinflammation as they apply to understanding the disease pathogenesis of common skin disorders.
November 22, 2016: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/27821552/type-i-interferon-mediated-monogenic-autoinflammation-the-type-i-interferonopathies-a-conceptual-overview
#5
REVIEW
Mathieu P Rodero, Yanick J Crow
Type I interferon is a potent substance. As such, the induction, transmission, and resolution of the type I interferon-mediated immune response are tightly regulated. As defined, the type I interferonopathies represent discrete examples of a disturbance of the homeostatic control of this system caused by Mendelian mutations. Considering the complexity of the interferon response, the identification of further monogenic diseases belonging to this disease grouping seems likely, with the recognition of type I interferonopathies becoming of increasing clinical importance as treatment options are developed based on an understanding of disease pathology and innate immune signaling...
November 14, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27813875/the-type-i-interferonopathies
#6
Min Ae Lee-Kirsch
Type I interferons (IFNs) play a central role in the immune defense against viral infections. Type I IFN activation is induced by pattern-recognition receptors of the innate immune system that sense pathogen-derived nucleic acids. Cellular responses to type I IFN signaling are orchestrated by a complex network of regulatory pathways that involve both the innate and adaptive immune system. The genetic and molecular dissection of rare Mendelian disorders associated with constitutive overproduction of type I IFN has provided unique insight into cell-intrinsic disease mechanisms that initiate and sustain autoinflammation and autoimmunity and that are caused by disturbances in the intracellular nucleic acid metabolism or in cytosolic nucleic acid-sensing pathways...
November 2, 2016: Annual Review of Medicine
https://www.readbyqxmd.com/read/27810922/-lubac-deficiency-perturbs-tlr3-signaling-to-cause-immunodeficiency-and-autoinflammation
#7
Julia Zinngrebe, Eva Rieser, Lucia Taraborrelli, Nieves Peltzer, Torsten Hartwig, Hongwei Ren, Ildikó Kovács, Cornelia Endres, Peter Draber, Maurice Darding, Silvia von Karstedt, Johannes Lemke, Balazs Dome, Michael Bergmann, Brian J Ferguson, Henning Walczak
The linear ubiquitin chain assembly complex (LUBAC), consisting of SHANK-associated RH-domain-interacting protein (SHARPIN), heme-oxidized IRP2 ubiquitin ligase-1 (HOIL-1), and HOIL-1-interacting protein (HOIP), is a critical regulator of inflammation and immunity. This is highlighted by the fact that patients with perturbed linear ubiquitination caused by mutations in the Hoip or Hoil-1 genes, resulting in knockouts of these proteins, may simultaneously suffer from immunodeficiency and autoinflammation. TLR3 plays a crucial, albeit controversial, role in viral infection and tissue damage...
November 14, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27796411/-pyoderma-gangrenosum-and-sweet-s-syndrome-cutaneous-manifestations-of-autoinflammatory-disorders
#8
B Meier, J-T Maul, L E French
Pyoderma gangrenosum and Sweet's syndrome are rare diseases that belong to the group of neutrophilic dermatoses and share several common characteristics. Although the two disorders differ clinically from each other, both diseases show pronounced dermal infiltration of neutrophils without evidence of primary vasculitis and respond well to immunosuppressive drugs. In addition, both diseases are often associated with other systemic and hematological disorders. Recent findings show that the neutrophil dermatoses can be considered as cutaneous manifestations of autoinflammation, demonstrating an interesting new aspect in the development of the diseases and additional therapeutic avenues...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27788288/pluripotent-cell-based-phenotypic-dissection-identifies-a-high-frequency-somatic-nlrc4-mutation-as-a-cause-of-autoinflammation
#9
Yuri Kawasaki, Hirotsugu Oda, Jun Ito, Akira Niwa, Takayuki Tanaka, Atushi Hijikata, Ryosuke Seki, Ayako Nagahashi, Mitsujiro Osawa, Isao Asaka, Akira Watanabe, Shigeo Nishimata, Tsuyoshi Shirai, Hisashi Kawashima, Osamu Ohara, Tatsutoshi Nakahata, Ryuta Nishikomori, Toshio Heike, Megumu K Saito
Objective To elucidate the genetic background of a patient with neonatal-onset multisystem inflammatory disease (NOMID) who does not carry any NLRP3 mutation. Methods A Japanese male diagnosed as NOMID was recruited. The patient had no NLRP3 mutation even as low frequency mosaicism. We performed whole exome sequencing (WES) of the patient and his parents. Induced pluripotent stem cells (iPSCs) were established from the fibroblasts of the patient. iPSCs were then differentiated into monocytic lineage to evaluate the cytokine profile...
October 27, 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27682255/the-burgeoning-field-of-innate-immune-mediated-disease-and-autoinflammation
#10
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...
September 29, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27646526/autoinflammatory-diseases-update-on-classification-diagnosis-and-management
#11
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...
September 19, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27639838/psoriasis-and-autoimmunity
#12
REVIEW
Michael Sticherling
Psoriasis is one of the most common chronic inflammatory human skin diseases. Though clinically well characterized, the exact etiological and pathogenic mechanisms are still not known in detail. Current knowledge indicates distinct overlap to other inflammatory as well as autoimmune disorders. However, the one or more relevant autoantigens could not be characterized so-far. On the other side, several autoimmune diseases were shown to be associated with psoriasis. In addition, serological autoimmune phenomena, namely diverse circulating specific autoantibodies could be demonstrated in the past...
September 15, 2016: Autoimmunity Reviews
https://www.readbyqxmd.com/read/27638338/nucleic-acid-mediated-autoinflammation-and-autoimmunity-type-i-interferonopathies
#13
Min Ae Lee-Kirsch, Claudia Günther, Axel Roers
No abstract text is available yet for this article.
October 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/27582173/autoimmune-and-inflammatory-manifestations-in-247-patients-with-primary-immunodeficiency-a-report-from-the-slovenian-national-registry
#14
Štefan Blazina, Gašper Markelj, Anja Koren Jeverica, Nataša Toplak, Nevenka Bratanič, Janez Jazbec, Peter Kopač, Maruša Debeljak, Alojz Ihan, Tadej Avčin
An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The objective of our study was to evaluate the frequency of non-infectious and non-malignant manifestations in a large cohort of patients included in the Slovenian national PID registry and to assess the time of manifestation onset with respect to the time of PID diagnosis. Medical records of registered patients were reviewed. Data on autoimmunity, lymphoproliferation, autoinflammation, allergies, PID diagnosis, and underlying genetic defects were collected and analyzed...
August 31, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27572974/shigella-flexneri-suppresses-nf-%C3%AE%C2%BAb-activation-by-inhibiting-linear-ubiquitin-chain-ligation
#15
Maarten F de Jong, Zixu Liu, Didi Chen, Neal M Alto
The linear ubiquitin chain assembly complex (LUBAC) is a multimeric E3 ligase that catalyses M1 or linear ubiquitination of activated immune receptor signalling complexes (RSCs). Mutations that disrupt linear ubiquitin assembly lead to complex disease pathologies including immunodeficiency and autoinflammation in both humans and mice, but microbial toxins that target LUBAC function have not yet been discovered. Here, we report the identification of two homologous Shigella flexneri type III secretion system effector E3 ligases IpaH1...
May 27, 2016: Nature Microbiology
https://www.readbyqxmd.com/read/27531928/taking-the-sting-out-of-tlr-driven-autoimmune-diseases-good-bad-or-indifferent
#16
Sudesh Pawaria, Shruti Sharma, Rebecca Baum, Kerstin Nündel, Patricia Busto, Ellen M Gravallese, Katherine A Fitzgerald, Ann Marshak-Rothstein
Both endosomal and cytosolic-nucleic acid-sensing receptors can detect endogenous ligands and promote autoimmunity and autoinflammation. These responses involve a complex interplay among and between the cytosolic and endosomal sensors involving both hematopoietic and radioresistant cells. Cytosolic sensors directly promote inflammatory responses through the production of type I IFNs and proinflammatory cytokines. Inflammation-associated tissue damage can further promote autoimmune responses indirectly, as receptor-mediated internalization of the resulting cell debris can activate endosomal Toll-like receptors (TLR)...
August 16, 2016: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/27474073/dna-sensing-via-tlr-9-constitutes-a-major-innate-immunity-pathway-activated-during-erythema-nodosum-leprosum
#17
André A Dias, Camila O Silva, João Pedro S Santos, Leonardo R Batista-Silva, Chyntia Carolina D Acosta, Amanda N B Fontes, Roberta O Pinheiro, Flávio A Lara, Alice M Machado, José Augusto C Nery, Euzenir N Sarno, Geraldo M B Pereira, Maria Cristina V Pessolani
The chronic course of lepromatous leprosy may be interrupted by acute inflammatory episodes known as erythema nodosum leprosum (ENL). Despite its being a major cause of peripheral nerve damage in leprosy patients, the immunopathogenesis of ENL remains ill-defined. Recognized by distinct families of germline-encoded pattern recognition receptors, endogenous and pathogen-derived nucleic acids are highly immunostimulatory molecules that play a major role in the host defense against infections, autoimmunity, and autoinflammation...
September 1, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27388993/ap1s3-mutations-cause-skin-autoinflammation-by-disrupting-keratinocyte-autophagy-and-up-regulating-il-36-production
#18
Satveer K Mahil, Sophie Twelves, Katalin Farkas, Niovi Setta-Kaffetzi, A David Burden, Joanna E Gach, Alan D Irvine, László Képíró, Maja Mockenhaupt, Hazel H Oon, Jason Pinner, Annamari Ranki, Marieke M B Seyger, Pere Soler-Palacin, Eoin R Storan, Eugene S Tan, Laurence Valeyrie-Allanore, Helen S Young, Richard C Trembath, Siew-Eng Choon, Marta Szell, Zsuzsanna Bata-Csorgo, Catherine H Smith, Paola Di Meglio, Jonathan N Barker, Francesca Capon
Prominent skin involvement is a defining characteristic of autoinflammatory disorders caused by abnormal IL-1 signaling. However, the pathways and cell types that drive cutaneous autoinflammatory features remain poorly understood. We sought to address this issue by investigating the pathogenesis of pustular psoriasis, a model of autoinflammatory disorders with predominant cutaneous manifestations. We specifically characterized the impact of mutations affecting AP1S3, a disease gene previously identified by our group and validated here in a newly ascertained patient resource...
November 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27351923/induction-of-myeloid-derived-suppressor-cells-in-cryopyrin-associated-periodic-syndromes
#19
Marlene Ballbach, Tobias Hall, Alina Brand, Davide Neri, Anurag Singh, Iris Schaefer, Eva Herrmann, Sandra Hansmann, Rupert Handgretinger, Jasmin Kuemmerle-Deschner, Dominik Hartl, Nikolaus Rieber
Cryopyrin-associated periodic syndromes (CAPS) are caused by mutations in the NLRP3 gene leading to overproduction of IL-1β and other NLRP3 inflammasome products. Myeloid-derived suppressor cells (MDSCs) represent a novel innate immune cell subset capable of suppressing T-cell responses. As inflammasome products were previously found to induce MDSCs, we hypothesized that NLRP3 inflammasome-dependent factors induce the generation of MDSCs in CAPS. We studied neutrophilic MDSCs, their clinical relevance, and MDSC-inducing factors in a unique cohort of CAPS patients under anti-IL-1 therapy...
2016: Journal of Innate Immunity
https://www.readbyqxmd.com/read/27296263/-serum-calgranulin-c-is-a-highly-sensitive-autoinflammation-activity-indicator-in-patients-with-familial-periodic-fevers
#20
M V Bogdanova, V V Rameev, L V Kozlovskaya, E S Fedorov, S O Salugina
AIM: To determine the possibility of using the serum proinflammatory calcium-binding protein, or calgranulin C (S100A12), to assess activity and therapeutic efficiency in patients with periodic disease (PD) and other familial periodic fevers (FPFs). SUBJECTS AND METHODS: Thirty-five patients with PD and other FPDs, which were verified by molecular genetic study, were examined. In accordance with the disease activity, the patients were divided into 2 groups. The investigators determined the concentration of S100A12 by solid-phase enzyme immunoassay and that of other acute-phase inflammatory markers (erythrocyte sedimentation rate (ERT), neutrophil counts, and fibrinogen and C-reactive protein (CRP) concentrations)...
2016: Terapevticheskiĭ Arkhiv
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