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https://www.readbyqxmd.com/read/28197772/-genetics-of-cryopyrin-associated-periodic-syndrome
#1
REVIEW
J B Kümmerle-Deschner, P Lohse
Familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurological, cutaneous and articular syndrome/neonatal onset multisystem inflammatory disease (CINCA/NOMID) were originally described as three distinct diseases. After the identification of their common genetic origin in 2001 and 2002, they are now perceived as a continuum of one disease entity and labelled cryopyrin-associated periodic syndromes (CAPS). Mutations in the NLRP3 gene on chromosome 1q44 can be detected in many affected patients...
February 14, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28196516/neurological-outcome-of-patients-with-cryopyrin-associated-periodic-syndrome-caps
#2
Nafissa Mamoudjy, Hélène Maurey, Isabelle Marie, Isabelle Koné-Paut, Kumaran Deiva
BACKGROUND: To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). METHODS: In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestations, CSF data and MRI results at diagnosis and during follow-up were analyzed...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28194777/familial-mediterranean-fever-patients-with-hidradenitis-suppurativa
#3
Secil Vural, Mustafa Gundogdu, Nihal Kundakci, Thomas Ruzicka
BACKGROUND: Hidradenitis suppurativa (HS) has recently been described as a component of two autoinflammatory syndromes: PASH (pyoderma gangrenosum, acne, and HS) and PAPASH (pyoderma gangrenosum, acne, pyogenic arthritis, and HS). These associations together with others such as inflammatory bowel diseases suggest that defects in autoinflammatory pathways may play a role in the pathogenesis of HS. OBJECTIVES: To describe clinical and genetic characteristics of two unrelated patients with HS and familial Mediterranean fever (FMF)...
February 14, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28194697/the-diagnostic-evaluation-of-patients-with-a-suspected-hereditary-periodic-fever-syndrome-experience%C3%A2-from%C3%A2-a-referral-center-in-italy
#4
Antonio Vitale, Donato Rigante, Orso Maria Lucherini, Anna De Palma, Ida Orlando, Stefano Gentileschi, Jurgen Sota, Antonella Simpatico, Claudia Fabiani, Mauro Galeazzi, Bruno Frediani, Luca Cantarini
The study aims are to describe the activity of our Unit on the diagnostics of monogenic autoinflammatory diseases (AIDs), and to apply the clinical classification criteria for periodic fevers from the Eurofever Registry to our cohort of patients, thus evaluating their usefulness in the real life. We retrospectively analyzed data from patients referring to our Center for recurrent fever attacks, and undergoing genetic analysis between April 2014 and July 2016, and we applied the classification criteria to both genetically positive and -negative patients...
February 13, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28191008/the-nlrp3-and-pyrin-inflammasomes-implications-in-the-pathophysiology-of-autoinflammatory-diseases
#5
REVIEW
Carlos de Torre-Minguela, Pablo Mesa Del Castillo, Pablo Pelegrín
Inflammasomes are multiprotein complexes that critically control different aspects of innate and adaptive immunity. Among them we could highlight the release of pro-inflammatory cytokines that induce and maintain the inflammatory response. Usually, inflammasomes result from oligomerization of a nucleotide-binding domain-like receptor (NLR) after sensing different pathogenic or endogenous sterile dangerous signals; however, other proteins such as absent in melanoma 2, retinoic acid-inducible gene I, or pyrin could also form inflammasome platforms...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28178435/an-up-to-date-approach-to-a-patient-with-a-suspected-autoinflammatory-disease
#6
REVIEW
Merav Lidar, Eitan Giat
Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied. Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). These hereditary diseases result from a mutant gene that is involved in the regulation of inflammation, resulting in a characteristic clinical phenotype...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28165841/survey-of-attitudes-of-non-pediatric-rheumatologists-among-councilors-of-the-japan-college-of-rheumatology-regarding-transitional-care
#7
Takako Miyamae, Syuji Takei, Yasuhiko Itoh, Hisashi Yamanaka
Objectives The transition from pediatric to adult healthcare systems has recently received worldwide attention. Surveys of the attitudes of Japanese non-pediatric rheumatologists regarding transitional care were conducted. Methods Non-pediatric rheumatologists among councilors of the Japan College of Rheumatology were enrolled in the surveys. Experiences of adult patients with childhood-onset rheumatic diseases, ideal medical care for these patients, and factors that made the transition to adult care difficult were examined via e-mail...
February 6, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28147281/the-atypical-ubiquitin-e2-conjugase-ube2l3-is-an-indirect-caspase-1-target-and-controls-il-1%C3%AE-secretion-by-inflammasomes
#8
Matthew J G Eldridge, Julia Sanchez-Garrido, Gil Ferreira Hoben, Philippa J Goddard, Avinash R Shenoy
Caspase-1 activation by inflammasome signaling scaffolds initiates inflammation and antimicrobial responses. Caspase-1 proteolytically converts newly induced pro-interleukin 1 beta (IL-1β) into its mature form and directs its secretion, triggering pyroptosis and release of non-substrate alarmins such as interleukin 1 alpha (IL-1α) and HMGB1. While some caspase-1 substrates involved in these events are known, the identities and roles of non-proteolytic targets remain unknown. Here, we use unbiased proteomics to show that the UBE2L3 ubiquitin conjugase is an indirect target of caspase-1...
January 31, 2017: Cell Reports
https://www.readbyqxmd.com/read/28137891/periodic-fever-with-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-syndrome-is-associated-with-a-card8-variant-unable-to-bind-the-nlrp3-inflammasome
#9
Ming Sin Cheung, Katerina Theodoropoulou, Jérôme Lugrin, Fabio Martinon, Nathalie Busso, Michaël Hofer
Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects children. Although tendencies were reported for this syndrome, genetic variations influencing risk and disease progression are poorly understood. In this study, we performed next-generation sequencing for 82 unrelated PFAPA patients and identified a frameshift variant in the CARD8 gene (CARD8-FS). Subsequently, we compared the frequency of CARD8-FS carriers in our PFAPA cohort (13...
January 30, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28134085/digenic-mefv-tnfrsf1a-autoinflammatory-syndrome-with-relapsing-aseptic-neutrophilic-meningitis-and-chronic-myelitis
#10
Anne Murarasu, Catherine Dodé, Guillaume Sarrabay, Isabelle Klein, Thomas Papo, Karim Sacré
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January 26, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28124745/-clinical-aspects-and-genetics-of-proteasome-associated-autoinflammatory-syndromes-praas
#11
REVIEW
E Feist, A Brehm, T Kallinich, E Krüger
Functional disorders of the proteasome can have a severe impact on the innate immune system. Characterized by an autosomal recessive mode of inheritance, this novel type of interferonopathy is considered to be a spectrum of diseases of proteasome-associated autoinflammatory syndromes (PRAAS). Accumulation of ubiquitinated proteins and the induction of type I interferon (IFN) genes seem to play a role in the pathogenesis. The typical clinical manifestations are lipodystrophy, skin, joint and muscle involvement accompanied by a remarkable variability of other associated symptoms...
January 26, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28094164/disorders-characterized-by-predominant-or-exclusive-dermal-inflammation
#12
Mark R Wick
Some cutaneous inflammatory disorders are typified by a predominant or exclusive localization in the dermis. They can be further subdivided by the principal cell types into lymphocytic, neutrophilic, and eosinophilic infiltrates, and mixtures of them are also seen in a proportion of cases. This review considers such conditions. Included among the lymphoid lesions are viral exanthems, pigmented purpuras, gyrate erythemas, polymorphous light eruption, lupus tumidus, and cutaneous lymphoid hyperplasia. Neutrophilic infiltrates are represented by infections, Sweet syndrome, pyoderma gangrenosum, and hidradenitis suppurativa, as well as a group of so-called "autoinflammatory" dermatitides comprising polymorphonuclear leukocytes...
December 14, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28064547/a-systematic-approach-to-autoinflammatory-syndromes-a-spelling-booklet-for-the-beginner
#13
Donato Rigante
Hallmark of autoinflammatory syndromes (AIS) is the periodic recurrence of 'sterile' inflammatory attacks characterized by fever and organ- or tissue-specific inflammation. Basic research projects over the last two decades have boosted our understanding of pathological pathways, mainly involving interleukin (IL)-1 biosynthesis, and also revealed that their dysregulation results from genetically-heterogeneous inborn errors of innate immunity and leads to multiple inflammatory phenotypes. Starting from the evidence of poor response to IL-1 inhibitors of some patients with multi-organ inflammation, further research studies have disclosed a crucial role for nuclear factor (NF)-κB and type I interferon (IFN) in specific AIS...
January 9, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28032234/the-emerging-role-of-interleukin-il-1-in-the-pathogenesis-and-treatment-of-inflammatory-and-degenerative-eye-diseases
#14
Claudia Fabiani, Jurgen Sota, Gian Marco Tosi, Rossella Franceschini, Bruno Frediani, Mauro Galeazzi, Donato Rigante, Luca Cantarini
Interleukin (IL)-1 plays a key role in the pathogenesis and thereafter in the search for specific treatments of different inflammatory and degenerative eye diseases. Indeed, an overactivity of IL-1 might be an initiating factor for many immunopathologic sceneries in the eye, as proven by the efficacy of the specific IL-1 blockade in different ocular diseases. For instance, the uveitis in monogenic autoinflammatory disorders, such as Blau syndrome and cryopyrin-associated periodic syndrome, or in complex polygenic autoinflammatory disorders, such as Behçet's disease, has been successfully treated with IL-1 blockers...
December 28, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/28029407/management-of-chronic-spontaneous-urticaria-in-routine-clinical-practice-a-delphi-method-questionnaire-among-specialists-to-test-agreement-with-current-european-guidelines-statements
#15
A Giménez-Arnau, M Ferrer, J Bartra, I Jáuregui, M Labrador-Horrillo, J Ortiz de Frutos, J F Silvestre, J Sastre, M Velasco, A Valero
BACKGROUND: Chronic spontaneous urticaria (CSU) is a frequent clinical entity that often presents a diagnostic and therapeutic challenge. OBJECTIVE: To explore the degree of agreement that exists among the experts caring for patients with CSU diagnosis, evaluation, and management. METHODS: An online survey was conducted to explore the opinions of experts in CSU, address controversial issues, and provide recommendations regarding its definition, natural history, diagnosis, and treatment...
October 28, 2016: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28028683/muckle-wells-syndrome-in-chinese-patients-a-single-center-case-series
#16
REVIEW
Di Wu, Min Shen
Muckle-Wells syndrome (MWS) is a rare autoinflammatory disease. This study aimed to report the clinical features and gene variations of the first case series of MWS patients in Chinese population. Four Han Chinese patients were diagnosed with MWS and followed up at our adult clinic for autoinflammatory diseases. All relevant phenotypes and genotypes were collected. All patients were adult male. The median age of disease onset was 4.5 years, and one patient had adult-onset disease. No positive family history was observed...
December 27, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27990755/efficacy-of-anakinra-in-an-adult-patient-with-recurrent-pericarditis-and-cardiac-tamponade-as-initial-manifestations-of-tumor-necrosis-factor-receptor-associated-periodic-syndrome-due-to-the-r92q-tnfrsf1a-variant
#17
Daniel Camprubí, Francesca Mitjavila, Juan I Arostegui, Xavier Corbella
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory disease caused by TNFRSF1A mutations. Patients with TRAPS suffer from recurrent, long episodes with fever, arthralgia/arthritis, migratory myalgias, abdominal pain, serositis, conjunctivitis and migratory erythematous skin rash. More than 70 different TNFRSF1A mutations have been reported to date, and as consequence of its genetic heterogeneity, TRAPS shows a variable phenotypic expression. Among TNFRSF1A variants, the low-penetrance p...
December 19, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27984003/a-systematic-analysis-of-treatment-and-outcomes-of-nod2-associated-autoinflammatory-disease
#18
Qingping Yao, Bo Shen
OBJECTIVES: Yao syndrome, formerly named NOD2-associated autoinflammatory disease, is a periodic disease characterized by fever, dermatitis, polyarthritis/leg swelling, and gastrointestinal and sicca-like symptoms associated with specific NOD2 sequence variants. Our aim was to evaluate the treatment and outcomes of the disease. METHODS: A total of 52 adult patients with autoinflammatory disease phenotype were diagnosed with Yao syndrome and enrolled at the Cleveland Clinic between November 2009 and May 2015...
March 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#19
REVIEW
Giusyda Tarantino, Susanna Esposito, Laura Andreozzi, Benedetta Bracci, Francesca D'Errico, Donato Rigante
Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene...
December 15, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27974463/a-disease-associated-mutant-of-nlrc4-shows-enhanced-interaction-with-sug1-leading-to-constitutive-fadd-dependent-caspase-8-activation-and-cell-death
#20
Akhouri Kishore Raghawan, Anand Sripada, Gayathri Gopinath, Pendyala Pushpanjali, Yatender Kumar, Vegesna Radha, Ghanshyam Swarup
Nod-like receptor family card containing 4 (NLRC4)/Ipaf is involved in recognition of pathogen-associated molecular patterns leading to caspase-1 activation and cytokine release, which mediate protective innate immune response. Point mutations in NLRC4 cause autoinflammatory syndromes. Although all the mutations result in constitutive caspase-1 activation, their phenotypic presentations are different, implying that these mutations cause different alterations in properties of NLRC4. NLRC4 interacts with SUG1 and induces caspase-8-mediated cell death...
January 27, 2017: Journal of Biological Chemistry
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