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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 mankind. This review focuses on some of the key developments which 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
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
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
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"
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
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...
2016: Nature Microbiology
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
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
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 Mb 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 (AID) caused by abnormal IL-1 signalling. However, the pathways and cell types that drive cutaneous AID features remain poorly understood. We sought to address this issue by investigating the pathogenesis of pustular psoriasis, a model of AID with predominant cutaneous manifestations. We specifically characterised the impact of mutations affecting AP1S3, a disease gene previously identified by our group and validated here in a newly ascertained patient resource...
July 4, 2016: Journal of Investigative Dermatology
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
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
Ricardo A G Russo, María M Katsicas
The monogenic autoinflammatory diseases are rare, genetic disorders resulting in constitutive innate immune defects leading to excessive response to danger signals, spontaneous activation of inflammatory mediators or loss of inhibitory regulators. During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system...
2016: Medicina
Christine Wolf, Alexander Rapp, Nicole Berndt, Wolfgang Staroske, Max Schuster, Manuela Dobrick-Mattheuer, Stefanie Kretschmer, Nadja König, Thomas Kurth, Dagmar Wieczorek, Karin Kast, M Cristina Cardoso, Claudia Günther, Min Ae Lee-Kirsch
Immune recognition of cytosolic DNA represents a central antiviral defence mechanism. Within the host, short single-stranded DNA (ssDNA) continuously arises during the repair of DNA damage induced by endogenous and environmental genotoxic stress. Here we show that short ssDNA traverses the nuclear membrane, but is drawn into the nucleus by binding to the DNA replication and repair factors RPA and Rad51. Knockdown of RPA and Rad51 enhances cytosolic leakage of ssDNA resulting in cGAS-dependent type I IFN activation...
2016: Nature Communications
Cailin H Sibley
HLA-B27 associated disorders comprise a group of inflammatory conditions which have in common an association with the HLA class I molecule, HLA-B27. Given this association, these diseases are classically considered disorders of adaptive immunity. However, mounting data are challenging this assumption and confirming that innate immunity plays a more prominent role in pathogenesis than previously suspected. In this review, the concept of autoinflammation is discussed and evidence is presented from human and animal models to support a key role for innate immunity in HLA-B27 associated disorders...
August 2016: Ocular Immunology and Inflammation
Immacolata Brigida, Samantha Scaramuzza, Dejan Lazarevic, Davide Cittaro, Francesca Ferrua, Lorena Leonardelli, Maria Alessio, Ornella Forma, Chiara Lanzani, Gianluca Viarengo, Fabio Ciceri, Momcilo Jankovic, Fernando Pesce, Alessandro Aiuti, Maria Pia Cicalese
No abstract text is available yet for this article.
August 2016: Journal of Allergy and Clinical Immunology
Helen J Lachmann, Paul A Brogan
No abstract text is available yet for this article.
April 25, 2016: Nature Reviews. Rheumatology
A V Marzano, A Borghi, P L Meroni, M Cugno
Pyoderma gangrenosum is a rare inflammatory neutrophilic dermatosis manifesting as painful ulcers with violaceous, undermined borders on the lower extremities. It may occur in the context of classic syndromes like PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) and SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis), as well as in a recently described entity named PASH (pyoderma gangrenosum, acne and suppurative hidradenitis). Pyoderma gangrenosum has recently been included within the spectrum of autoinflammatory diseases, which are characterized by recurrent episodes of sterile inflammation, without circulating autoantibodies and autoreactive T cells...
April 23, 2016: British Journal of Dermatology
Yalcin Solak, Baris Afsar, Nosratola D Vaziri, Gamze Aslan, Can Ege Yalcin, Adrian Covic, Mehmet Kanbay
Hypertension that is considered idiopathic is called essential hypertension and accordingly has no clear culprit for its cause. However, basic research and clinical studies in recent years have expanded our understanding of the mechanisms underlying the development of essential hypertension. Of these, increased oxidative stress, both in the kidney and arterial wall, closely coupled with inflammatory infiltration now appear to have a prominent role. Discovery of regulatory and interleukin-17-producing T cells has enabled us to better understand the mechanism by which inflammation and autoimmunity, or autoinflammation, lead to the development of hypertension...
August 2016: Hypertension Research: Official Journal of the Japanese Society of Hypertension
Timothy J Vece, Levi B Watkin, Sarah K Nicholas, Debra Canter, Michael C Braun, Robert Paul Guillerman, Karen W Eldin, Grant Bertolet, Scott D McKinley, Marietta de Guzman, Lisa R Forbes, Ivan Chinn, Jordan S Orange
Inherently defective immunity typically results in either ineffective host defense, immune regulation, or both. As a category of primary immunodeficiency diseases, those that impair immune regulation can lead to autoimmunity and/or autoinflammation. In this review we focus on one of the most recently discovered primary immunodeficiencies that leads to immune dysregulation: "Copa syndrome". Copa syndrome is named for the gene mutated in the disease, which encodes the alpha subunit of the coatomer complex-I that, in aggregate, is devoted to transiting molecular cargo from the Golgi complex to the endoplasmic reticulum (ER)...
May 2016: Journal of Clinical Immunology
Rebecca Noster, Heleen D de Koning, Elisabeth Maier, Martina Prelog, Elke Lainka, Christina E Zielinski
BACKGROUND: TH17 cells have so far been considered to be crucial mediators of autoimmune inflammation. Two distinct types of TH17 cells have been described recently, which differed in their polarization requirement for IL-1β and in their cytokine repertoire. Whether these distinct TH17 phenotypes translate into distinct TH17 cell functions with implications for human health or disease has not been addressed yet. OBJECTIVE: We hypothesized the existence of proinflammatory and anti-inflammatory human TH17 cell functions based on the differential expression of IL-10, which is regulated by IL-1β...
March 31, 2016: Journal of Allergy and Clinical Immunology
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