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Autoinflammatory disease

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https://www.readbyqxmd.com/read/29034454/successful-treatment-of-sapho-syndrome-with-apremilast
#1
S Adamo, J Nilsson, A Krebs, U Steiner, A Cozzio, L E French, A G A Kolios
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare disease with inflammatory osteoarticular and skin involvement. The pathogenesis of SAPHO syndrome remains unclear, but evidence suggests it may be an autoinflammatory disease triggered upon exposure to infectious agents in genetically predisposed individuals. Induction of the IL-23/Th17 axis as well as neutrophil activation seem to play a key role, and therapies targeting these immunological pathways, including TNF-inhibitors, ustekinumab, secukinumab and the IL-1 inhibitor anakinra are potential treatment options that need further investigation...
October 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29032440/vasculitis-and-vasculitis-like-manifestations-in-monogenic-autoinflammatory-syndromes
#2
REVIEW
Avinash Jain, Durga Prasanna Misra, Aman Sharma, Anupam Wakhlu, Vikas Agarwal, Vir Singh Negi
Monogenic autoinflammatory syndromes are a rare group of disorders characterized by periodic episodes of systemic inflammation of endogenous origin. Sometimes, these diseases may present with features akin to vasculitis. We conducted a literature review on such vasculitic manifestations in described monogenic autoinflammatory syndromes utilizing the Online Mendelian Inheritance in Man (OMIM), Medline, and Scopus databases. Our search identified that Familial Mediterranean fever (FMF) can manifest with features of either small, medium, large, or variable-vessel vasculitis...
October 14, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29027576/neonatal-ulcerative-colitis-associated-with-familial-mediterranean-fever-a-case-report
#3
Elif Sag, Ferhat Demir, Mustafa Emre Ercin, Mukaddes Kalyoncu, Murat Cakir
Neonatal inflammatory bowel disease (IBD) is a subclass of very early onset IBD that includes children younger than 1 month. It is characterized by more colonic involvement and monogenetic etiology, resistance to classical anti-inflammatory/immunomodulatory treatments and associated with colitis in first-degree family members. Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination. She was diagnosed with neonatal ulcerative colitis (UC) based on clinical, laboratory and histopathological examination...
October 13, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29025800/approach-to-recurrent-fever-in-childhood
#4
REVIEW
Gordon S Soon, Ronald M Laxer
OBJECTIVE: To provide an approach to recurrent fever in childhood, explain when infections, malignancies, and immunodeficiencies can be excluded, and describe the features of periodic fever and other autoinflammatory syndromes. SOURCES OF INFORMATION: PubMed was searched for relevant articles regarding the pathogenesis, clinical findings, diagnosis, prognosis, and treatment of periodic fever and autoinflammatory syndromes. MAIN MESSAGE: Fever is a common sign of illness in children and is most frequently due to infection...
October 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29021150/identification-of-a-selective-and-direct-nlrp3-inhibitor-to-treat-inflammatory-disorders
#5
Hua Jiang, Hongbin He, Yun Chen, Wei Huang, Jinbo Cheng, Jin Ye, Aoli Wang, Jinhui Tao, Chao Wang, Qingsong Liu, Tengchuan Jin, Wei Jiang, Xianming Deng, Rongbin Zhou
The NLRP3 inflammasome has been implicated in the pathogenesis of a wide variety of human diseases. A few compounds have been developed to inhibit NLRP3 inflammasome activation, but compounds directly and specifically targeting NLRP3 are still not available, so it is unclear whether NLRP3 itself can be targeted to prevent or treat diseases. Here we show that the compound CY-09 specifically blocks NLRP3 inflammasome activation. CY-09 directly binds to the ATP-binding motif of NLRP3 NACHT domain and inhibits NLRP3 ATPase activity, resulting in the suppression of NLRP3 inflammasome assembly and activation...
October 11, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29017770/longitudinal-analysis-of-serum-interleukin-18-in-patients-with-familial-mediterranean-fever-carrying-mefv-mutations-in-exon-10
#6
Taizo Wada, Tomoko Toma, Hanae Miyazawa, Eiko Koizumi, Tetsujiro Shirahashi, Yusuke Matsuda, Akihiro Yachie
BACKGROUND: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene. Mutations in exon 10 are associated with typical FMF phenotypes, and patients with exon 10 mutations have higher serum levels of interleukin (IL)-18 both during attacks and afebrile phases, compared to those without exon 10 mutations. However, longitudinal changes of serum IL-18 in FMF have not been fully characterized. METHODS: We serially evaluated serum levels of pro-inflammatory cytokines, including IL-18, in 12 patients with FMF carrying exon 10 mutations, all of whom showed typical FMF attacks...
October 7, 2017: Cytokine
https://www.readbyqxmd.com/read/28992365/familial-mediterranean-fever-and-incidence-of-cancer-an-analysis-of-8534-patients-with-258-803-person-years
#7
Ronen Brenner, Ilan Ben-Zvi, Yael Shinar, Irena Liphshitz, Barbara Silverman, Nir Peled, Carmit Levy, Eldad Ben-Chitrit, Avi Livneh, Shaye Kivity
OBJECTIVE: Familial Mediterranean fever (FMF) is an autoinflammatory disease manifested with recurrent serosal inflammation. The association between FMF and malignancy has not been described. The aim of this study was to estimate cancer risk in a large single-institution cohort of FMF patients. METHODS: The study cohort consisted of 8,534 FMF patients registered in the Israel National FMF Center at Tel Hashomer, Israel. We linked the study cohort to the database of the Israel National Cancer Registry using the national identity number...
October 9, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28983775/deficiency-of-adenosine-deaminase-2-dada2-an-inherited-cause-of-polyarteritis-nodosa-and-a-mimic-of-other-systemic-rheumatologic-disorders
#8
REVIEW
Hasan Hashem, Susan J Kelly, Nancy J Ganson, Michael S Hershfield
PURPOSE OF REVIEW: A new autoinflammatory disease, deficiency of adenosine deaminase 2 (DADA2), caused by mutations in the CECR1 gene, was first reported in 2014. This review aims to update progress in defining, treating, and understanding this multi-faceted disorder. RECENT FINDINGS: DADA2 was first described in patients with systemic inflammation, mild immune deficiency, and vasculopathy manifested as recurrent stroke or polyarteritis nodosa (PAN). More than 125 patients have now been reported, and the phenotype has expanded to include children and adults presenting primarily with pure red cell aplasia (PRCA), or with antibody deficiency...
October 5, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28980913/can-we-make-a-diagnosis-of-autoinflammatory-diseases-based-upon-clinical-features-only
#9
EDITORIAL
Eldad Ben-Chetrit, Huri Ozdogan
No abstract text is available yet for this article.
September 21, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28980897/comparison-of-patients-with-familial-mediterranean-fever-accompanied-with-sacroiliitis-and-patients-with-juvenile-spondyloarthropathy
#10
Hafize Emine Sönmez, Ezgi Deniz Batu, Selcan Demir, Yelda Bilginer, Seza Özen
OBJECTIVES: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease manifesting with self-limited recurrent febrile attacks and polyserositis. Acute recurrent monoarthritis is the most common form of musculoskeletal involvement in FMF; however, up to 5% of FMF patients may develop chronic joint diseases including sacroiliitis. It is difficult to distinguish whether sacroiliitis is a musculoskeletal finding of FMF or whether this is the coexistence of two diseases, FMF and SpA...
September 26, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28968889/bone-involvement-in-monogenic-autoinflammatory-syndromes
#11
Brigitte Bader-Meunier, Erika Van Nieuwenhove, Sylvain Breton, Carine Wouters
Until recently the most common autoinflammatory diseases (AIDs) associated with bone disease in childhood included a few genetically complex (chronic non-bacterial osteomyelitis, synovitis, acne, pustulosis, hyperostosis and osteitis syndrome) and monogenic (Majeed syndrome, deficiency of IL-1 receptor antagonist, cherubism) AIDs. However, the spectrum of monogenic AIDs associated with bone manifestations has markedly expanded to include both recently identified diseases such as the type I interferonopathies and also newly recognized bone dysplasias in already established AIDs...
August 22, 2017: Rheumatology
https://www.readbyqxmd.com/read/28968868/international-multi-centre-study-of-pregnancy-outcomes-with-interleukin-1-inhibitors
#12
Taryn Youngstein, Patrycja Hoffmann, Ahmet Gül, Thirusha Lane, Rene Williams, Dorota M Rowczenio, Huri Ozdogan, Serdal Ugurlu, John Ryan, Len Harty, Sean Riminton, Alex P Headley, Joachim Roesler, Norbert Blank, Jasmin B Kuemmerle-Deschner, Anna Simon, Adrian S Woolf, Philip N Hawkins, Helen J Lachmann
Objective: To provide outcome data concerning pregnancies exposed to the Interleukin-1 (IL-1) inhibitors prior to conception in both men and women, during pregnancy and breast feeding. Methods: Retrospective data were collected from members of the International Society for Systemic Autoinflammatory diseases and collated in a single centre. A uniform data collection sheet was used to obtain standardized data including maternal age and diagnosis, type, duration of and response to IL-1 blockade, pregnancy duration, delivery, mode of feeding and neonatal development...
August 23, 2017: Rheumatology
https://www.readbyqxmd.com/read/28957823/nlrc4-inflammasomopathies
#13
Neil Romberg, Tiphanie P Vogel, Scott W Canna
PURPOSE OF REVIEW: The purpose of the review is to highlight developments in autoinflammatory diseases associated with gain-of-function mutations in the gene encoding NLR-family CARD-containing protein 4 (NLRC4), the NLRC4-inflammasomopathies. RECENT FINDINGS: Three years since the identification of the first autoinflammation with infantile enterocolitis (AIFEC) patients, there is an improved understanding of how the NLRC4 inflammasome and interleukin 18 (IL-18) contribute to gut inflammation in myeloid and also intestinal epithelial cells...
September 27, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28956095/imaging-findings-of-copa-syndrome-in-a-12-year-old-boy
#14
Razan Noorelahi, Geovany Perez, Hansel J Otero
Copa syndrome is a newly described autosomal dominant autoinflammatory disease that presents as pulmonary hemosiderosis and polyarticular arthritis. Twenty-one cases from five families have been reported to date. We present chest computed tomography (CT) and temporomandibular joint magnetic resonance (MR) findings of a 12-year-old boy presenting with dyspnea on exertion, fatigue and clubbing. Additional findings included a restrictive pattern of pulmonary involvement and positive inflammatory markers and autoantibodies...
September 28, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28956000/accurate-clinical-genetic-testing-for-autoinflammatory-diseases-using-the-next-generation-sequencing-platform-miseq
#15
Manabu Nakayama, Hirotsugu Oda, Kenji Nakagawa, Takahiro Yasumi, Tomoki Kawai, Kazushi Izawa, Ryuta Nishikomori, Toshio Heike, Osamu Ohara
Autoinflammatory diseases occupy one of a group of primary immunodeficiency diseases that are generally thought to be caused by mutation of genes responsible for innate immunity, rather than by acquired immunity. Mutations related to autoinflammatory diseases occur in 12 genes. For example, low-level somatic mosaic NLRP3 mutations underlie chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID). In current clinical practice, clinical genetic testing plays an important role in providing patients with quick, definite diagnoses...
March 2017: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/28950818/inflammation-and-epilepsy-preclinical-findings-and-potential-clinical-translation
#16
Gaetano Terrone, Alessia Salamone, Annamaria Vezzani
BACKGROUND: The lack of treatments which can prevent epilepsy development or improve disease prognosis represents an unmet and urgent clinical need. The development of such drugs requires a deep understanding of the mechanisms underlying disease pathogenesis. In the last decade, preclinical studies in models of acute seizures and of chronic epilepsy highlighted that neuroinflammation arising in brain areas of seizure onset and generalization is a key contributor to neuronal hyper-excitability underlying seizure generation...
September 25, 2017: Current Pharmaceutical Design
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
#17
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
#18
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
#19
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
#20
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
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