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Autoinflammatory diseases

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https://www.readbyqxmd.com/read/29790686/the-expression-of-selected-molecular-markers-of-immune-tolerance-in-psoriatic-patients
#1
Joanna Bartosińska, Joanna Purkot, Małgorzata Kowal, Anna Michalak-Stoma, Dorota Krasowska, Grażyna Chodorowska, Krzysztof Giannopoulos
BACKGROUND: Psoriasis is a chronic autoinflammatory disease whose underlying molecular mechanisms remain unclear. The disease is mediated by the cells and molecules of both the innate and adaptive immune systems. Some T cell surface molecules, including neuropilin-1 (NRP1), programmed death 1 (PD-1) and the human leukocyte antigen G (HLA-G), are known to play a role in the maintenance of immune tolerance. OBJECTIVES: The aim of this study was to investigate HLA-G, NRP1 and programmed cell death gene (PDCD1) mRNA expression in psoriatic patients...
April 24, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29788367/infantile-onset-intractable-inflammatory-bowel-disease-due-to-novel-heterozygous-mutations-in-tnfaip3-a20
#2
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/29778503/autoinflammatory-mutation-in-nlrc4-reveals-an-lrr-lrr-oligomerization-interface
#3
Fiona Moghaddas, Ping Zeng, Yuxia Zhang, Heike Schützle, Sebastian Brenner, Sigrun R Hofmann, Reinhard Berner, Yuanbo Zhao, Bingtai Lu, Xiaoyun Chen, Li Zhang, Suyun Cheng, Stefan Winkler, Kai Lehmberg, Scott W Canna, Peter E Czabotar, Ian P Wicks, Dominic De Nardo, Christian M Hedrich, Huasong Zeng, Seth L Masters
BACKGROUND: Monogenic autoinflammatory disorders are characterised by dysregulation of the innate immune system, for example by gain-of-function mutations in inflammasome forming proteins such as NLRC4. OBJECTIVE: Here we investigate the mechanism by which a novel mutation in the leucine rich repeat (LRR) domain of NLRC4 (c.G1965C, p.W655C) contributes to autoinflammatory disease. METHODS: We studied two unrelated patients with early onset macrophage activation syndrome (MAS) harboring the same de novo mutation in NLRC4...
May 17, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29776891/chronic-recurrent-multifocal-osteomyelitis-in-pediatrics-a-diagnostic-challenge
#4
N Roig-Abraham, M Méndez-Hernández, M Martínez-Morillo
Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disease that presents with aseptic bone inflammation and can be accompanied by multisystemic symptoms. We present the case of a 14-year-old male with a 2-week history of pain located at the tibial metaphysis and fever. X-ray revealed a lytic lesion in the tibial metaphysis. MRI revealed an intramedullary bone lesion with perilesional bone oedema. CT-guided biopsy discounted malignancy and microbiological cultures were negative. The patient's symptoms and fever worsened after the biopsy; therefore antibiotherapy was commenced for a suspected superinfection...
May 15, 2018: Revista Española de Cirugía Ortopédica y Traumatología
https://www.readbyqxmd.com/read/29773275/periodic-fever-syndromes
#5
REVIEW
Helen J Lachmann
Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or childhood and are characterised by recurrent episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. The best recognised disorders include CAPS, FMF, TRAPS and MKD. Understanding the molecular pathogenesis of these disorders provides unique insights into the regulation of innate immunity. Diagnosis relies on clinical acumen and is supported by genetic testing...
August 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29773270/systemic-juvenile-idiopathic-arthritis-new-insights-into-pathogenesis-and-cytokine-directed-therapies
#6
REVIEW
Manuela Pardeo, Claudia Bracaglia, Fabrizio De Benedetti
Systemic juvenile idiopathic arthritis (sJIA) is considered as a polygenic autoinflammatory disease. The prominent systemic clinical features, the marked elevation of inflammatory markers, and the absence of autoantibodies make this disease very different from the other juvenile idiopathic arthritis (JIA) forms. Innate immune mechanisms appear to play a central role: the overproduction of inflammatory cytokines of innate immunity is a typical feature of sJIA. Increased understanding of the role of these cytokines has been translated into therapeutic approaches...
August 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29773081/long-term-familial-mediterranean-fever-remission-on-successful-hepatitis-c-virus-treatment-in-a-patient-not-responding-to-colchicine-a-case-report
#7
Manik Gemilyan, Gagik Hakobyan, Susanna Ananyan
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disorder characterized by periodic febrile attacks of aseptic serositis and/or arthritis. The main treatment is colchicine which prevents attacks in the majority of patients except for a group of colchicine-resistant cases. Chronic hepatitis C is a viral infection causing chronic inflammation of liver tissue (hepatitis) which ultimately progresses to fibrosis and liver cirrhosis with a high chance of hepatocellular carcinoma...
May 18, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29770930/safety-profile-of-the-interleukin-1-inhibitors-anakinra-and-canakinumab-in-real-life-clinical-practice-a-nationwide-multicenter-retrospective-observational-study
#8
Jurgen Sota, Antonio Vitale, Antonella Insalaco, Paolo Sfriso, Giuseppe Lopalco, Giacomo Emmi, Marco Cattalini, Raffaele Manna, Rolando Cimaz, Roberta Priori, Rosaria Talarico, Ginevra de Marchi, Micol Frassi, Romina Gallizzi, Alessandra Soriano, Maria Alessio, Daniele Cammelli, Maria Cristina Maggio, Stefano Gentileschi, Renzo Marcolongo, Francesco La Torre, Claudia Fabiani, Serena Colafrancesco, Francesca Ricci, Paola Galozzi, Ombretta Viapiana, Elena Verrecchia, Manuela Pardeo, Lucia Cerrito, Elena Cavallaro, Alma Nunzia Olivieri, Giuseppe Paolazzi, Gianfranco Vitiello, Armin Maier, Elena Silvestri, Chiara Stagnaro, Guido Valesini, Marta Mosca, Salvatore de Vita, Angela Tincani, Giovanni Lapadula, Bruno Frediani, Fabrizio De Benedetti, Florenzo Iannone, Leonardo Punzi, Carlo Salvarani, Mauro Galeazzi, Rossella Angotti, Mario Messina, Gian Marco Tosi, Donato Rigante, Luca Cantarini
A few studies have reported the safety profile of interleukin (IL)-1 blockers from real life. The aim of this study is to describe anakinra (ANA) and canakinumab (CAN) safety profile in children and adults, based on data from a real-life setting. Demographic, clinical, and therapeutic data from patients treated with ANA and CAN were retrospectively collected and analyzed. Four hundred and seventy five patients were enrolled; ANA and CAN were prescribed in 421 and 105 treatment courses, respectively. During a mean follow-up of 24...
May 17, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29768139/canakinumab-for-the-treatment-of-autoinflammatory-recurrent-fever-syndromes
#9
Fabrizio De Benedetti, Marco Gattorno, Jordi Anton, Eldad Ben-Chetrit, Joost Frenkel, Hal M Hoffman, Isabelle Koné-Paut, Helen J Lachmann, Seza Ozen, Anna Simon, Andrew Zeft, Inmaculada Calvo Penades, Michel Moutschen, Pierre Quartier, Ozgur Kasapcopur, Anna Shcherbina, Michael Hofer, Philip J Hashkes, Jeroen Van der Hilst, Ryoki Hara, Segundo Bujan-Rivas, Tamas Constantin, Ahmet Gul, Avi Livneh, Paul Brogan, Marco Cattalini, Laura Obici, Karine Lheritier, Antonio Speziale, Guido Junge
BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks...
May 17, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29766377/resolution-of-femoral-metaphyseal-dysplasia-in-cinca-syndrome-after-long-term-treatment-with-interleukin-1-blockade
#10
REVIEW
Donato Rigante, Raffaele Manna, Elena Verrecchia, Raffaella Marrocco, Antonio Leone
Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare autoinflammatory disorder driven by uncontrolled hypersecretion of interleukin (IL)-1, which can be clinically depicted by striking cutaneous, neurologic, and skeletal features. Little is known about the exact pathogenesis of CINCA bone disease, which mainly involves the knees. We report a 20-year-old CINCA patient, who was consecutively treated firstly with anakinra, started at 7 years, then with full dose canakinumab, started at 17 years, focusing on the typical bone abnormalities of the syndrome: the comparison of radiographs of knees performed at 7 and 20 years has shown the disappearance of a typical metaphyseal dysplasia occurring in the femurs of this CINCA patient, regularly treated with IL-1 blockade for a period of 13 years...
May 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29761911/the-evaluation-of-salivary-oxidative-stress-in-patients-with-familial-mediterranean-fever-and-chronic-periodontitis
#11
Gözde Dinç, Özlem Fentoğlu, Atalay Doğru, İlter İlhan, F Yeşim Kırzıoğlu, Hikmet Orhan
BACKGROUND: Familial Mediterranean fever (FMF) is an inherent autoinflammatory disease and have a high prevalence in Mediterranean countries. The aim of this study was to evaluate salivary levels of oxidative stress parameters in patients with FMF and chronic periodontitis. METHODS: The study population consists of 81 patients with FMF and 85 systemically healthy controls. The test and control groups were classified as chronic periodontitis and periodontally healthy [FMF-periodontitis (n = 37); FMF-periodontally healthy (n = 44); systemically healthy-periodontitis (n = 37); systemically and periodontally healthy (n = 48]...
May 15, 2018: Journal of Periodontology
https://www.readbyqxmd.com/read/29746675/chronic-granulomatous-disease-epidemiology-pathophysiology-and-genetic-basis-of-disease
#12
N L Rider, M B Jameson, C B Creech
Chronic Granulomatous Disease is one of the classic primary immunodeficiencies of childhood. While the incidence and severity of bacterial and fungal infections have been greatly reduced in this patient population, much remains to be learned about the pathophysiology of the disease, particularly for autoinflammatory manifestations. In this review, we examine the epidemiology, pathophysiology, and genetic basis for CGD.
May 9, 2018: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/29742060/renal-involvement-in-autoinflammatory-diseases-and-inflammasome-mediated-chronic-kidney-damage
#13
REVIEW
Roberto Scarpioni, Laura Obici
Unprovoked activation of innate immune pathways and increased secretion of interleukin (IL)-1β and IL-18 are responsible for the protean clinical manifestations and the marked inflammatory response that characterise most hereditary autoinflammatory disorders. The kidney is a major target organ of this inflammatory process. The deposition of the acute-phase reactant serum amyloid A (SAA) as amyloid causes progressive glomerular and vascular damage and leads to organ failure. In this review we focus on the potential impact of hereditary autoinflammatory diseases on renal function, provide red flags that may guide the clinical suspicion of amyloid kidney damage and discuss the relevance of close renal monitoring for early diagnosis and prompt treatment...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742059/autoinflammatory-diseases-as-a-cause-of-acute-abdominal-pain-in-the-emergency-department
#14
REVIEW
Giovanni Maconi, Laura Obici, Stefania Carmagnola, Stefano Guzzetti
Autoinflammatory diseases (AIDs) usually present with acute abdominal pain and fever, both of which are also the main causes of referral in the emergency department. As some patients with acute abdominal pain may be discharged from the emergency department without a definitive diagnosis, it is not surprising that, due to their rarity, most cases of AID remain undiagnosed or are misdiagnosed as acute appendicitis. Indeed, the diagnosis of familial Mediterranean fever and autoinflammatory syndromes requires a high index of suspicion and careful assessment of clinical history...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742058/neurological-manifestations-in-autoinflammatory-diseases
#15
REVIEW
Antonio Uccelli, Marco Gattorno
Autoinflammatory diseases (AIDs) are a distinct group of diseases characterised by a dysregulation of the innate immune response leading to systemic inflammation. The clinical spectrum of these conditions is extremely variable and possibly every system and tissue can be involved, including the central nervous system (CNS). Indeed, neurological manifestations may dominate the clinical picture from disease onset in some rare conditions. However, the involvement of the CNS in AIDs is not a disease in itself, but represents a rare complication which is consequent to a systemic or local immune response, mainly involving cells of the innate immunity...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742057/the-eye-involvement-in-monogenic-autoinflammatory-diseases-literature-review-and-update
#16
REVIEW
Jurgen Sota, Antonio Vitale, Claudia Fabiani, Bruno Frediani, Donato Rigante, Gian Marco Tosi, Maria Elisabetta Zannin, Luca Cantarini
Monogenic autoinflammatory diseases (AIDs) are rare entities characterised by improper activation of the innate immune system. This in turn determines recurrent episodes of systemic inflammation characterised by fever, which is variously combined with a wide range of inflammatory manifestations involving the skin, joints, serous membranes, gastrointestinal tract, and central nervous system. As shown by research efforts conducted during the last decade, the eye is not exempt from the systemic inflammatory process and may be involved in almost all of the most frequent AIDs, with several distinct peculiarities...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742056/a-dermatologic-perspective-on-autoinflammatory-diseases
#17
REVIEW
Angelo Valerio Marzano, Giovanni Damiani, Giovanni Genovese, Marco Gattorno
Autoinflammatory diseases (AIDs) encompass a heterogeneous group of disorders pathogenetically related to an abnormal activation of the innate immunity and clinically characterised by aseptic inflammation in the affected organs in the absence of high titer of circulating autoantibodies or autoreactive T cells. In classic monogenic AIDs, the skin is frequently involved with a wide range of cutaneous lesions. Monogenic AIDs result from different mutations in a single gene, which regulates the innate immunity...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742055/musculoskeletal-manifestations-in-hereditary-periodic-fever-syndromes
#18
REVIEW
Martina Soliani, Marco Cattalini, Antonio Vitale, Jurgen Sota, Luca Cantarini
Monogenic autoinflammatory diseases (AIDs) are a group of inflammatory disorders induced by deregulation of the innate immune system and characterised by inflammatory bouts with fever as well as a large spectrum of other possible manifestations involving most organs and tissues. In this context, musculoskeletal manifestations represent a frequent finding in the clinical picture of patients with AIDs and may range from less severe affections including myalgia and arthralgia to severe arthritis, muscle fasciitis, bone erosions, and joint deformities...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742054/overview-of-fever-of-unknown-origin-in-adult-and-paediatric-patients
#19
REVIEW
Luciano Attard, Marina Tadolini, Domenico Umberto De Rose, Marco Cattalini
Fever of unknown origin (FUO) can be caused by a wide group of diseases, and can include both benign and serious conditions. Since the first definition of FUO in the early 1960's, several updates to the definition, diagnostic and therapeutic approaches have been proposed. This review outlines a case report of an elderly Italian male patient with high fever and migrating arthralgia who underwent many procedures and treatments before a final diagnosis of Adult-onset Still's disease was achieved. This case report highlights the difficulties in diagnosing certain causes of FUO that requires a very high index of suspicion...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29742053/updated-overview-of-molecular-pathways-involved-in-the-most-common-monogenic-autoinflammatory-diseases
#20
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
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