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Neutrophils autoinflammatory

Hagit Peleg, Eldad Ben-Chetrit
PURPOSE OF REVIEW: This article addresses the prevalence and relationship between autoinflammatory diseases and vasculitis. RECENT FINDINGS: Autoimmune diseases (AIDs) are a group of syndromes characterized by episodes of unprovoked inflammation due to dysregulation of the innate immune system. Despite the common occurrence of rashes and other skin lesions in these diseases, vasculitis is reported in only a few. On the other hand, neutrophilic dermatoses are more prevalent...
October 13, 2016: Current Opinion in Rheumatology
Paul Hasler, Stavros Giaglis, Sinuhe Hahn
Polymorphonuclear neutrophil granulocytes are the first responders of the immune system to threats by invading microorganisms. In the traditional view, they combat the intruders by phagocytosis and externalisation of granules containing lytic and microbicidal factors. A dozen years ago, this concept was expanded by the observation that neutrophils may react to bacteria by extruding their nuclear chromosomal DNA with attached nuclear and cytoplasmic constituents to form extracellular reticular structures. Since they trapped and immobilised the microbes, they were designated neutrophil extracellular traps (NETs), and their ensuing cell death NETosis...
2016: Swiss Medical Weekly
Hanna Kim, Gina A Montealegre Sanchez, Raphaela Goldbach-Mansky
Autoinflammatory disorders are sterile inflammatory conditions characterized by episodes of early-onset fever and disease-specific patterns of organ inflammation. Recently, the discoveries of monogenic disorders with strong type I interferon (IFN) signatures caused by mutations in proteasome degradation and cytoplasmic RNA and DNA sensing pathways suggest a pathogenic role of IFNs in causing autoinflammatory phenotypes. The IFN response gene signature (IGS) has been associated with systemic lupus erythematosus (SLE) and other autoimmune diseases...
October 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
Roberta Caorsi, Federica Penco, Francesca Schena, Marco Gattorno
The deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease characterised by an early onset vasculopathy with livedoid skin rash associated with systemic manifestations, CNS involvement and mild immunodeficiency.This condition is secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1) gene, mapped to chromosome 22q11.1, that encodes for the enzymatic protein adenosine deaminase 2 (ADA2). By now 19 different mutations in CECR1 gene have been detected...
2016: Pediatric Rheumatology Online Journal
Mayassa J Bou-Dargham, Zahraa I Khamis, Armand B Cognetta, Qing-Xiang Amy Sang
Inflammation plays a major role in the induction and progression of several skin diseases. Overexpression of the major epidermal proinflammatory cytokines interleukin (IL) 1 alpha (IL-1α) and 1 beta (IL-1β) is positively correlated with symptom exacerbation and disease progression in psoriasis, atopic dermatitis, neutrophilic dermatoses, skin phototoxicity, and skin cancer. IL-1β and the interleukin-1 receptor I (IL-1RI) have been used as a therapeutic target for some autoinflammatory skin diseases; yet, their system-wide effects limit their clinical usage...
September 8, 2016: Medicinal Research Reviews
Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Li Tsai, Hye Sun Kuehn, Hongying Wang, Dan Yang, Yong Hwan Park, Amanda K Ombrello, Mary Blake, Tina Romeo, Elaine F Remmers, Jae Jin Chae, James C Mullikin, Ferhat Güzel, Joshua D Milner, Manfred Boehm, Sergio D Rosenzweig, Massimo Gadina, Steven B Welch, Seza Özen, Rezan Topaloglu, Mario Abinun, Daniel L Kastner, Ivona Aksentijevich
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a deubiquitinase with linear linkage specificity. We identified two missense and one frameshift mutations in one Pakistani and two Turkish families with four affected patients. Patients presented with neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency...
September 6, 2016: Proceedings of the National Academy of Sciences of the United States of America
A Torrelo, L Noguera-Morel, A Hernández-Martín, D Clemente, J M Barja, L Buzón, D Azorín, A A de Jesús, J C López-Robledillo, I Colmenero, H Kutzner, R Goldbach-Mansky, L Requena
BACKGROUND: Recurrent panniculitis in children with lipoatrophy has been loosely described and reported under different names, but has never been systematically evaluated by immunohistochemical stains. OBJECTIVE: To depict the profile of children with recurrent idiopathic panniculitis. METHODS: Study of clinical, histopathological and immunohistochemical features in five cases with recurrent idiopathic panniculitis. RESULTS: Five children with repeated attacks of painful subcutaneous nodules in association with fever, malaise and abdominal pain or arthralgia, with subsequent lipoatrophy were reviewed...
August 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Pawel Majewski, Monika Majchrzak-Gorecka, Beata Grygier, Joanna Skrzeczynska-Moncznik, Oktawia Osiecka, Joanna Cichy
Neutrophil extracellular traps (NETs), DNA webs released into the extracellular environment by activated neutrophils, are thought to play a key role in the entrapment and eradication of microbes. However, NETs are highly cytotoxic and a likely source of autoantigens, suggesting that NET release is tightly regulated. NET formation involves the activity of neutrophil elastase (NE), which cleaves histones, leading to chromatin decondensation. We and others have recently demonstrated that inhibitors of NE, such as secretory leukocyte protease inhibitor (SLPI) and SerpinB1, restrict NET production in vitro and in vivo...
2016: Frontiers in Immunology
Yiyan Liu
Chronic nonbacterial osteomyelitis is a rare entity of unknown etiology and most likely an autoinflammatory disease. A 45-year-old man complained of a growing painful mass of the right chest wall. FDG PET/CT demonstrated a large destructive rib lesion with intense uptake and extensive FDG avid lymphadenopathy, which mimicked a malignant or metastatic disease. Both CT guided core-needle and excisional biopsies showed reactive/regenerative/granulomatous changes coupled with focal neutrophils and marrow atrophy, consistent with chronic osteomyelitis...
September 2016: Clinical Nuclear Medicine
Michelle Urbanski, Karen Holfeld, Ardyth Milne, Mariam Abbas
BACKGROUND: Schnitzler syndrome (SS) is a rare autoinflammatory disorder characterized by a recurrent urticarial rash and a monoclonal immunoglobulin M gammopathy, as well as 2 of the following minor criteria: recurrent fever (>38°C), objective signs of abnormal bone remodeling, elevated C-reactive protein level or leukocytosis, and a neutrophilic infiltrate on skin biopsy. Alternatively, a monoclonal immunoglobulin G gammopathy may be present along with 3 minor criteria for diagnosis...
June 29, 2016: Journal of Cutaneous Medicine and Surgery
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
Faekah Gohar, Banu Orak, Tilmann Kallinich, Marion Jeske, Mareike Lieber, Horst von Bernuth, Arnd Giese, Elisabeth Weissbarth-Riedel, Johannes-Peter Haas, Frank Dressler, Dirk Holzinger, Peter Lohse, Ulrich Neudorf, Elke Lainka, Claas Hinze, Katja Masjosthusmann, Christoph Kessel, Toni Weinhage, Dirk Foell, Helmut Wittkowski
Objectives Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by pyrin-encoding MEFV gene mutations. Patients present with recurrent but self-limiting episodes of acute inflammation and often have persistent subclinical inflammation. The pathophysiology is only partially understood, but neutrophil overactivation is a hallmark of the disease. S100A12 is a neutrophil-derived pro-inflammatory danger signal that is strongly elevated in active FMF. We characterised neutrophilic secretory activity in vitro and investigated the association of S100A12 with disease activity and genotype in FMF patients...
June 22, 2016: Arthritis & Rheumatology
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
Per Wekell, Halla Björnsdottir, Lena Björkman, Martina Sundqvist, Karin Christenson, Veronica Osla, Stefan Berg, Anders Fasth, Amanda Welin, Johan Bylund, Anna Karlsson
OBJECTIVE: We aimed to investigate if aberrant intracellular production of NADPH oxidase-derived reactive oxygen species (ROS) in neutrophils is a disease mechanism in the autoinflammatory disease SAPHO syndrome, characterized by synovitis, acne, pustulosis, hyperostosis and osteitis, as has previously been suggested based on a family with SAPHO syndrome-like disease. METHODS: Neutrophil function was explored in a cohort of four patients with SAPHO syndrome, two of whom were sampled during both inflammatory and non-inflammatory phase...
August 2016: Rheumatology
Fatih Mehmet Kelesoglu, Erhan Aygun, Nazli Kubra Okumus, Ayşenur Ersoy, Edanur Karapınar, Nesibe Saglam, Nur Gokce Aydın, Beyza Betul Senay, Sumeyye Gonultas, Elif Sarisik, Melike Zeynep Can, Sirin Atay, Dilruba Basbug, Feyza Kubra Tiryaki, Sena Ozer, Rana Berru Durmus, Fatih Orem, Tugrul Atay, Ahmet Acar, Yasin Yilmaz, Seyma Kaya, Aylin Ciftkaya, Zeynep Sarac, Cagri Can Makar, Basak Saracoglu, Gafur Dogdu, Rukiye Eker Omeroglu
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease of childhood and adulthood. Development of systemic amyloidosis and frequent attack influence quality of life and survival. There is sporadic evidence indicating subclinical inflammation in patients with FMF. We aimed to assess subclinical inflammation using neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), and C-reactive protein (CRP) in pediatric patients with FMF in the attack-free period. In this retrospective study, we reviewed the files of all FMF patients in our pediatric rheumatology outpatient clinic in a tertiary center and enrolled those with sufficient clinical and laboratory data...
April 23, 2016: Clinical 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
Seth L Masters, Vasiliki Lagou, Isabelle Jéru, Paul J Baker, Lien Van Eyck, David A Parry, Dylan Lawless, Dominic De Nardo, Josselyn E Garcia-Perez, Laura F Dagley, Caroline L Holley, James Dooley, Fiona Moghaddas, Emanuela Pasciuto, Pierre-Yves Jeandel, Raf Sciot, Dena Lyras, Andrew I Webb, Sandra E Nicholson, Lien De Somer, Erika van Nieuwenhove, Julia Ruuth-Praz, Bruno Copin, Emmanuelle Cochet, Myrna Medlej-Hashim, Andre Megarbane, Kate Schroder, Sinisa Savic, An Goris, Serge Amselem, Carine Wouters, Adrian Liston
Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF). We studied a family with a dominantly inherited autoinflammatory disease, distinct from FMF, characterized by childhood-onset recurrent episodes of neutrophilic dermatosis, fever, elevated acute-phase reactants, arthralgia, and myalgia/myositis...
March 30, 2016: Science Translational Medicine
Katerina Theodoropoulou, Federica Vanoni, Michaël Hofer
PFAPA syndrome represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high fever, pharyngitis, cervical adenitis, and aphthous stomatitis. Many possible causative factors have been explored so far, including infectious agents, immunologic mechanisms and genetic predisposition, but the exact etiology remains unclear. Recent findings demonstrate a dysregulation of different components of innate immunity during PFAPA flares, such as monocytes, neutrophils, complement, and pro-inflammatory cytokines, especially IL-1β, suggesting an inflammasome-mediated innate immune system activation and supporting the hypothesis of an autoinflammatory disease...
April 2016: Current Rheumatology Reports
Mathieu Leuenberger, Jeanne Berner, Julie Di Lucca, Lara Fischer, Nikolaos Kaparos, Curdin Conrad, Daniel Hohl, Alexander So, Michel Gilliet
PASS syndrome is a rare inflammatory disease characterized by a chronic-relapsing course of pyoderma gangrenosum, acne vulgaris, hidradenitis suppurativa and ankylosing spondylitis. Here, we describe a case of a patient with spontaneously recurrent purulent skin lesions along with seronegative spondylarthritis consistent with the PASS syndrome. During his disease exacerbation, the patient displayed episodes of fever along with elevated serum levels of interleukin (IL)-1β. Skin lesions were characterized by sterile neutrophilic infiltrates and showed a rapid response to the IL-1 receptor antagonist anakinra (Kineret®) consistent with the autoinflammatory nature of this disease...
2016: Dermatology: International Journal for Clinical and Investigative Dermatology
Hiroaki Ida
Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways...
October 2015: Rinsho Byori. the Japanese Journal of Clinical Pathology
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