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Autoinflammatory diseases

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https://www.readbyqxmd.com/read/28943464/the-spectrum-of-familial-mediterranean-fever-gene-mefv-mutations-and-genotypes-in-iran-and-report-of-a-novel-missense-variant-r204h
#1
Nader Ebadi, Abbas Shakoori, Masoumeh Razipour, Arash Salmaninejad, Razieh Zarifian Yeganeh, Saman Mehrabi, Seyed RezaRaees Karami, Malihea Khaleghian, Hamidreza Azhideh
BACKGROUND: Familial Mediterranean Fever (FMF) is an autosomal recessive disorder, characterized by recurrent and self-limited episodes of fever, abdominal pain, synovitis and pleuritis. FMF as the most common inherited monogenic autoinflammatory disease mainly affects ethnic groups of the Mediterranean basin, Arab, Jewish, Turkish, Armenian North Africans and Arabic descent. MATERIALS AND METHODS: In the present study, we selected 390 unrelated FMF patients according to the Tel-Hashomer criteria, and analyzed all patients for 12 most common mutations of MEFV gene by reverse hybridization assay (FMF strip assay)...
September 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28942479/tumor-necrosis-factor-associated-periodic-syndrome-in-adults
#2
REVIEW
Sharika Gopakumar Menon, Petros Efthimiou
Tumor necrosis factor-associated periodic syndrome is an autoinflammatory disorder classified under hereditary periodic fever syndromes. Mutations in the tumor necrosis factor receptor contribute to tumor necrosis factor-associated periodic syndrome. Decreased shedding of receptors and increased mitochondrial reactive oxygen species production leading to elevated proinflammatory cytokines are documented. Inflammation in various organs is hallmark of tumor necrosis factor-associated periodic syndrome and manifests as spiking fever, abdominal pain, conjunctivitis and polyserositis in adults...
September 23, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28941161/from-clinical-observations-and-molecular-dissection-to-novel-therapeutic-strategies-for-primary-immunodeficiency-disorders
#3
REVIEW
Hans D Ochs, Daniel Petroni
The field of primary immunodeficiency diseases (PID) is rapidly expanding with more than 300 genetically defined disorders that have been clinically described and molecularly analyzed. The molecular dissection of these entities has led to the discovery of new immunologic pathways and to novel and effective disease-specific therapies. This review provides a summary of these primary immune defects categorized by clinical phenotype and molecular similarity as defined by the International Union of Immunologic Societies (IUIS) Expert Committee for PID...
September 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28935693/a-multidimensional-blood-stimulation-assay-reveals-immune-alterations-underlying-systemic-juvenile-idiopathic-arthritis
#4
Alma-Martina Cepika, Romain Banchereau, Elodie Segura, Marina Ohouo, Brandi Cantarel, Kristina Goller, Victoria Cantrell, Emily Ruchaud, Elizabeth Gatewood, Phuong Nguyen, Jinghua Gu, Esperanza Anguiano, Sandra Zurawski, Jeanine M Baisch, Marilynn Punaro, Nicole Baldwin, Gerlinde Obermoser, Karolina Palucka, Jacques Banchereau, Sebastian Amigorena, Virginia Pascual
The etiology of sporadic human chronic inflammatory diseases remains mostly unknown. To fill this gap, we developed a strategy that simultaneously integrates blood leukocyte responses to innate stimuli at the transcriptional, cellular, and secreted protein levels. When applied to systemic juvenile idiopathic arthritis (sJIA), an autoinflammatory disease of unknown etiology, this approach identified gene sets associated with specific cytokine environments and activated leukocyte subsets. During disease remission and off treatment, sJIA patients displayed dysregulated responses to TLR4, TLR8, and TLR7 stimulation...
September 21, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28934246/discovery-of-pf-06928215-as-a-high-affinity-inhibitor-of-cgas-enabled-by-a-novel-fluorescence-polarization-assay
#5
Justin Hall, Amy Brault, Fabien Vincent, Shawn Weng, Hong Wang, Darren Dumlao, Ann Aulabaugh, Dikran Aivazian, Dana Castro, Ming Chen, Jeffrey Culp, Ken Dower, Joseph Gardner, Steven Hawrylik, Douglas Golenbock, David Hepworth, Mark Horn, Lyn Jones, Peter Jones, Eicke Latz, Jing Li, Lih-Ling Lin, Wen Lin, David Lin, Frank Lovering, Nootaree Niljanskul, Ryan Nistler, Betsy Pierce, Olga Plotnikova, Daniel Schmitt, Suman Shanker, James Smith, William Snyder, Timothy Subashi, John Trujillo, Edyta Tyminski, Guoxing Wang, Jimson Wong, Bruce Lefker, Leslie Dakin, Karen Leach
Cyclic GMP-AMP synthase (cGAS) initiates the innate immune system in response to cytosolic dsDNA. After binding and activation from dsDNA, cGAS uses ATP and GTP to synthesize 2', 3' -cGAMP (cGAMP), a cyclic dinucleotide second messenger with mixed 2'-5' and 3'-5' phosphodiester bonds. Inappropriate stimulation of cGAS has been implicated in autoimmune disease such as systemic lupus erythematosus, thus inhibition of cGAS may be of therapeutic benefit in some diseases; however, the size and polarity of the cGAS active site makes it a challenging target for the development of conventional substrate-competitive inhibitors...
2017: PloS One
https://www.readbyqxmd.com/read/28928270/the-evolving-role-of-the-rheumatologist-in-the-management-of-immune-related-adverse-events-iraes-caused-by-cancer-immunotherapy
#6
EDITORIAL
Leonard Calabrese, Xavier Mariette
The rapid introduction of immunotherapies for cancer-targeting immunological checkpoints has led to a new class of toxicities that appear to be of autoimmune and or autoinflammatory origin. These disorders are now referred to as immune-related adverse events (irAEs) and pose considerable challenges to patient care in terms of how to optimally manage these formidable toxicities while allowing effective antitumoural therapy to continue. While rheumatologists will naturally be called on to manage those irAEs of rheumatic origin, we believe there is a need and an opportunity for rheumatologists to participate as central figures in this evolving field, in large part because of our familiarity with multiorgan autoimmune disease and our expertise in crafting and utilising both traditional and biological immune-based therapies...
September 19, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28926322/vitamin-d-status-serum-lipid-concentrations-and-vitamin-d-receptor-vdr-gene-polymorphisms-in-familial-mediterranean-fever
#7
Turan Turhan, Halef Okan Doğan, Nihal Boğdaycioğlu, Nilnur Eyerci, Ahmet Omma, İsmail Sari, Ahmet Yeşilyurt, Yaşar Karaaslan
Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls. A total of 38 patients were in acute attacks at the time of investigation...
September 18, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28923673/monogenic-autoinflammatory-diseases-general-concepts-and-presentation-in-adult-patients
#8
REVIEW
José Hernández-Rodríguez, Estíbaliz Ruiz-Ortiz, Jordi Yagüe
Monogenic autoinflammatory diseases (AIFD) are rare disorders characterized by an uncontrolled increase of the systemic inflammatory response, which is caused by mutations in genes involved in inflammatory pathways. Over the last few years, new genes and proteins responsible for new monogenic AIFD have been identified and a substantial improvement in their treatment has been achieved. Monogenic AIFD manifestations typically begin during childhood, but they can also occur in adults. Compared to pediatric patients, adults usually present with a less severe disease and fewer long-term complications...
September 15, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28918934/reconstructive-microsurgical-approach-for-the-treatment-of-pyoderma-gangrenosum
#9
Karl Schwaiger, Elisabeth Russe, Hassan Kholosy, Michaela Hladik, Klemens Heinrich, Laurenz Weitgasser, Thomas Schoeller, Gottfried Wechselberger
INTRODUCTION: Pyoderma gangrenosum (PG) is a rare type of autoimmune disease that results in progressive ulcers with or without previous trauma. However, PG is not well understood to date, and its treatment therefore remains a challenge. Because of the disease's systemic characteristic and the unpredictability of the clinical course, no gold standard treatment is available, especially concerning the surgical procedures to treat pyodermic lesions. Often, PG is not recognized during routine clinical practice, and standard ulcer treatment (conservative wound care, debridement, skin grafting, and local flap coverage) is initiated; this induces an autoinflammatory response, resulting in disastrous ulcers, thereby making free flap coverage necessary...
August 16, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28917219/reuma-pt-contribution-to-the-knowledge-of-immune-mediated-systemic-rheumatic-diseases
#10
Maria José Santos, Helena Canhão, Ana Filipa Mourão, Filipa Oliveira Ramos, Cristina Ponte, Cátia Duarte, Anabela Barcelos, Fernando Martins, José António Melo Gomes
Patient registries are key instruments aimed at a better understanding of the natural history of diseases, at assessing the effectiveness of therapeutic interventions, as well as identifying rare events or outcomes that are not captured in clinical trials. However, the potential of registries goes far beyond these aspects. For example, registries promote the standardization of clinical practice, can also provide information on domains that are not routinely collected in clinical practice and can support decision-making...
September 14, 2017: Acta Reumatológica Portuguesa
https://www.readbyqxmd.com/read/28916023/beh%C3%A3-et-disease-new-aspects
#11
Isil Bulur, Meltem Onder
Behçet disease is currently considered an "autoinflammatory disease" triggered by infection and environmental factors in genetically predisposed individuals. Although the disease is characterized by recurrent oral and genital aphthous ulcers and ocular involvement, it can affect multiple organ systems. Complex aphthosis is characterized by recurrent oral and/or genital aphthous ulcers. It is important to evaluate the patient with complex aphthosis for Behçet disease and related systemic disorders. We discuss the etiopathogenesis, clinical features, diagnostic criteria, and treatment approaches for complex aphthosis and Behçet disease in light of the current literature...
September 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28900629/siae-rare-variants-in-juvenile-idiopathic-arthritis-and-primary-antibody-deficiencies
#12
Eirini Sevdali, Elena Tsitsami, Maria Tsinti, Evangelia Farmaki, Efimia Papadopoulou-Alataki, Anastasios E Germenis, Matthaios Speletas
Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the distinct pathogenesis of the two main subtypes of JIA, autoinflammatory systemic (sJIA) and autoimmune oligo/polyarticular (aJIA), and a predisposition to autoimmunity displayed by patients and families with primary antibody deficiencies (PADs), the aim of our study was to analyze whether SIAE rare variants are associated with both the phenotype of JIA and the autoimmunity risk in families with PADs...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28888842/evidence-refuting-the-existence-of-autoimmune-autoinflammatory-syndrome-induced%C3%A2-by-adjuvants-asia
#13
Rohan Ameratunga, David Gillis, Michael Gold, Allan Linneberg, J Mark Elwood
Autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA) was described in 2011. Over time the condition and its triggers have broadened to include several autoimmune disorders, the macrophagic myofasciitis syndrome, the Gulf war syndrome, the sick building syndrome, siliconosis, and the chronic fatigue syndrome. The aluminum-containing adjuvants in the hepatitis B vaccine and the human papillomavirus vaccine in particular have been stated to be the major causes of the disorder. Here, we review the specificity of the diagnostic criteria for ASIA...
September 6, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28866302/hemophagocytic-syndrome-primary-forms-and-predisposing-conditions
#14
REVIEW
Fernando E Sepulveda, Geneviève de Saint Basile
Hemophagocytic lymphohistiocytosis (HLH, also referred to a hemophagocytic syndrome) is a life-threatening condition in which uncontrolled activation of lymphocytes and macrophages, and thus the secretion of large amounts of inflammatory cytokines, leads to a severe hyperinflammatory state. Over the last few decades, researchers have characterized primary forms of HLH caused by genetic defects that impair lymphocytes' cytotoxic machinery. Other genetic causes of HLH not related to impaired cytotoxicity have also recently been identified...
August 31, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28860008/a-signalome-screening-approach-in-the-autoinflammatory-disease-tnf-receptor-associated-periodic-syndrome-traps-highlights-the-anti-inflammatory-properties-of-drugs-for-repurposing
#15
Ian Todd, Ola H Negm, Jenna Reps, Paul Radford, Grazziela Figueredo, Elizabeth M McDermott, Elizabeth Drewe, Richard J Powell, Susan Bainbridge, Mohamed Hamed, Sharon Crouch, Jon Garibaldi, Steve St-Gallay, Lucy C Fairclough, Patrick J Tighe
TNF receptor associated periodic syndrome (TRAPS) is an autoinflammatory disease caused by mutations in TNF Receptor 1 (TNFR1). Current therapies for TRAPS are limited and do not target the pro-inflammatory signalling pathways that are central to the disease mechanism. Our aim was to identify drugs for repurposing as anti-inflammatories based on their ability to down-regulate molecules associated with inflammatory signalling pathways that are activated in TRAPS. This was achieved using rigorously optimized, high through-put cell culture and reverse phase protein microarray systems to screen compounds for their effects on the TRAPS-associated inflammatory signalome...
August 30, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28838825/coexistence-of-sarcoidosis-and-gouty-arthritis
#16
Hüseyin Semiz, Senol Kobak
Sarcoidosis is an inflammatory disease with unknown cause characterized by non-caseating granuloma formations. It may present with bilateral hilar lymphadenopathy, skin lesions, the involvement of eye and symptoms on the locomotor system. Gouty arthritis is an autoinflammatory disease characterized by hyperuricemia, recurrent arthritis attacks and the deposition of monosodium urate crystals in the joints and the surrounding tissues. We reported the coexistence of sarcoidosis and gouty arthritis in this paper...
August 21, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28836875/a-novel-nucleotide-oligomerisation-domain-2-mutation-in-a-family-with-blau-syndrome-phenotype-and-function
#17
Lawrence Tc Ong, Ueli Nachbur, Dorota Rowczenio, John B Ziegler, Eddy Fischer, Ming Wei Lin
Mutations in the nucleotide binding domain of the PRR, NOD2, are associated with the autoinflammatory diseases Blau syndrome and early-onset sarcoidosis. Current theories suggest that constitutive activation of the NOD2 pathway may be responsible for pathogenesis of these diseases. Here, we report the phenotype of a kindred with Blau syndrome caused by a novel NOD2 mutation (p.E383D). Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome...
January 1, 2017: Innate Immunity
https://www.readbyqxmd.com/read/28835462/a-novel-pyrin-associated-autoinflammation-with-neutrophilic-dermatosis-mutation-further-defines-14-3-3-binding-of-pyrin-and-distinction-to-familial-mediterranean-fever
#18
Fiona Moghaddas, Rafael Llamas, Dominic De Nardo, Helios Martinez-Banaclocha, Juan J Martinez-Garcia, Pablo Mesa-Del-Castillo, Paul J Baker, Vanessa Gargallo, Anna Mensa-Vilaro, Scott Canna, Ian P Wicks, Pablo Pelegrin, Juan I Arostegui, Seth L Masters
OBJECTIVE: Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation disrupts a binding motif of the regulatory 14-3-3 proteins within pyrin. Here, we investigate a family with clinical features consistent with PAAND in whom the novel p.E244K MEFV mutation, located in the +2 site of the 14-3-3 binding motif in pyrin, has been found. METHODS: Multiplex cytokine analyses were performed on p...
August 23, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28830446/autoimmune-phenotype-with-type-i-interferon-signature-in-two-brothers-with-ada2-deficiency-carrying-a-novel-cecr1-mutation
#19
Andrea Skrabl-Baumgartner, Barbara Plecko, Wolfgang M Schmidt, Nadja König, Michael Hershfield, Ursula Gruber-Sedlmayr, Min Ae Lee-Kirsch
BACKGROUND: Loss-of-function CECR1 mutations cause polyarteritis nodosa (PAN) with childhood onset, an autoinflammatory disorder without significant signs of autoimmunity. Herein we describe the unusual presentation of an autoimmune phenotype with constitutive type I interferon activation in siblings with adenosine deaminase 2 (ADA2) deficiency. CASE PRESENTATION: We describe two siblings with early-onset recurrent strokes, arthritis, oral ulcers, discoid rash, peripheral vascular occlusive disease and high antinuclear antibody titers...
August 22, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28814775/mutational-profile-of-rare-variants-in-inflammasome-related-genes-in-beh%C3%A3-et-disease-a-next-generation-sequencing-approach
#20
Sergio Burillo-Sanz, Marco-Antonio Montes-Cano, José-Raúl García-Lozano, Lourdes Ortiz-Fernández, Norberto Ortego-Centeno, Francisco-José García-Hernández, Gerard Espinosa, Genaro Graña-Gil, Juan Sánchez-Bursón, María Rosa Juliá, Roser Solans, Ricardo Blanco, Ana-Celia Barnosi-Marín, Ricardo Gómez De la Torre, Patricia Fanlo, Mónica Rodríguez-Carballeira, Luis Rodríguez-Rodríguez, Teresa Camps, Santos Castañeda, Juan-Jose Alegre-Sancho, Javier Martín, María Francisca González-Escribano
Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used...
August 16, 2017: Scientific Reports
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