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autoinflammatory syndrome

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https://www.readbyqxmd.com/read/28094164/disorders-characterized-by-predominant-or-exclusive-dermal-inflammation
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
October 28, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#8
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
#9
Akhouri Kishore Raghawan, Anand Sripada, Gayathri Gopinath, Pendyala Pushpanjali, Yatender Kumar, Vegesna Radha, Ghanshyam Swarup
NLRC4/Ipaf is involved in recognition of pathogen-associated molecular patterns leading to caspase-1 activation and cytokine release that mediate protective innate immune response. Point mutations in NLRC4 cause autoinflammatory syndromes. Though 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. Here, we show that one of the autoinflammatory syndromecausing mutants of NLRC4, H443P, but not T337A and V341A, constitutively activates caspase-8 and induces apoptotic cell death in human lung epithelial cells...
December 14, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27965258/a-new-autoinflammatory-and-autoimmune-syndrome-associated-with-nlrp1-mutations-naiad-nlrp1-associated-autoinflammation-with-arthritis-and-dyskeratosis
#10
Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, Frédéric Tran Mau-Them, Didier Bessis, Christine Coubes, Eric Frouin, Marieke Seyger, Manon Girard, Jacques Puechberty, Valérie Costes, Michel Rodière, Aurélia Carbasse, Eric Jeziorski, Pierre Portales, Guillaume Sarrabay, Michel Mondain, Christian Jorgensen, Florence Apparailly, Esther Hoppenreijs, Isabelle Touitou, David Geneviève
OBJECTIVES: Inflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like receptor (NLR) containing a PYRIN domain 1 (NLRP1), NLRP3 and NLRC4 plays a key role in this innate immune system by directly assembling in inflammasomes and regulating inflammation. Mutations in NLRP3 and NLRC4 are linked to hereditary autoinflammatory diseases, whereas polymorphisms in NLRP1 are associated with autoimmune disorders such as vitiligo and rheumatoid arthritis...
December 13, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27943240/autoinflammation-in-pyoderma-gangrenosum-and-its-syndromic-form-pash
#11
A Marzano, G Damiani, I Ceccherini, E Berti, M Gattorno, M Cugno
BACKGROUND: Pyoderma gangrenosum (PG) is a rare skin disease characterized clinically by ulcers with undermined borders, and histologically by neutrophil-rich infitrates. PG may occur alone, in syndromic forms or associated with systemic diseases as inflammatory bowel diseases and hematological or rheumatological disorders. OBJECTIVES: Although some autoinflammatory diseases present with PG, to date, a specific genetic background related to autoinflammation has not been proven for PG...
December 10, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27938384/macrophage-activation-syndrome-triggered-by-coeliac-disease-a-unique-case-report
#12
J Palman, J May, C Pilkington
BACKGROUND: Macrophage activation syndrome is described as a "clinical syndrome of hyperinflammation resulting in an uncontrolled and ineffective immune response" in the context of an autoinflammatory or rheumatic disease. Current associations of macrophage activation syndrome with autoimmune disease most notably include a host of rheumatological conditions and inflammatory bowel disease. Epidemiological studies have shown that macrophage activation syndrome is precipitated by autoimmune disease more commonly than previously thought...
December 9, 2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27927236/chronic-infantile-neurological-cutaneous-and-articular-cinca-syndrome-a-review
#13
REVIEW
Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi, Marco Gattorno
INTRODUCTION: The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that regulates the activation and secretion of interleukin (IL)-1β...
December 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27906774/lessons-from-characterization-and-treatment-of-the-autoinflammatory-syndromes
#14
Ivona Aksentijevich, Michael F McDermott
PURPOSE OF REVIEW: The list of genes associated with systemic inflammatory diseases has been steadily growing because of the explosion of new genomic technologies. Significant advances in the past year have deepened our understanding of the molecular mechanisms linked to inflammation and elucidated insights on the efficacy of specific therapies for these and related conditions. We review the molecular pathogenesis of four recently characterized monogenic autoinflammatory diseases: haploinsufficiency of A20, otulipenia, a severe form of pyrin-associated disease, and a monogenic form of systemic juvenile idiopathic arthritis...
November 30, 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27905098/are-neutrophilic-dermatoses-autoinflammatory-disorders
#15
REVIEW
T K Satoh, M Mellett, E Contassot, L E French
Neutrophils constitute essential players in inflammatory responses and are the first line of defence against harmful stimuli. However, dysregulation of neutrophil homeostasis can result in excessive inflammation and subsequent tissue damage. Neutrophilic dermatoses are a spectrum of inflammatory disorders characterized by skin lesions resulting from a neutrophil-rich inflammatory infiltrate in the absence of infection. The exact molecular pathophysiology of neutrophilic dermatoses has long been poorly understood...
November 30, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27899390/hyper-igd-and-periodic-fever-syndrome-hids-due-to-compound-heterozygosity-for-g336s-and-v377i-in-a-44-year-old-patient-with-a-27-year-history-of-fever
#16
Stefan Schlabe, Carolynne Schwarze-Zander, Peter Lohse, Jürgen Kurt Rockstroh
Hereditary autoinflammatory syndromes are a rare, but notable cause of fever of unknown origin. During the last few years, the knowledge of the genetic background has significantly increased. Here, we report a novel pathogenic mutation in the MVK gene as the cause of fever in a 44-year-old male patient with a history of fever over a period of 27 years.
November 29, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27894451/eczema-and-urticaria-as-manifestations-of-undiagnosed-and-rare-diseases
#17
REVIEW
Molly J Youssef, Yvonne E Chiu
Eczema and urticaria are common disorders encountered in pediatric patients, but they may occasionally be the presenting complaint in a child with an underlying rare disease. Immunodeficiency syndromes should be suspected when eczema is associated with neonatal onset, recurrent infections, chronic lymphadenopathy, or failure to thrive. Nutritional deficiencies and mycosis fungoides are in the differential diagnosis for a child with a recalcitrant eczematous eruption. Autoinflammatory syndromes should be suspected in a child with chronic urticaria, fever, and other systemic signs of inflammation...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894439/when-to-suspect-autoinflammatory-recurrent-fever-syndromes
#18
REVIEW
James W Verbsky
Autoinflammatory disorders are disorders characterized by rash, arthritis, fever, and systemic inflammation. These disorders are caused by mutations in genes important in innate immune system sensors. This review highlights the workup of an individual with recurrent episodes of inflammation, features of these disorders, the genetic defects that cause these disorders, and the specific treatments available.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27873163/an-update-on-the-use-of-immunomodulators-in-primary-immunodeficiencies
#19
REVIEW
Pandiarajan Vignesh, Amit Rawat, Surjit Singh
The genomic revolution in the past decade fuelled by breathtaking advances in sequencing technologies has defined several new genetic diseases of the immune system. Many of these newly characterized diseases are a result of defects in genes involved in immune regulation. The discovery of these diseases has opened a vista of new therapeutic possibilities. Immunomodulatory agents, a hitherto unexplored therapeutic option in primary immunodeficiency diseases have been tried in a host of these newly described maladies...
November 21, 2016: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/27860302/clinical-and-genetic-association-radiological-findings-and-response-to-biological-therapy-in-seven-children-from-qatar-with-non-bacterial-osteomyelitis
#20
Taha Moussa, Venkatraman Bhat, Vishwanatha Kini, Basil M Fathalla
AIM: We aim to report the clinical manifestations, genetic testing results, magnetic resonance imaging (MRI) findings and biologics used in the management of non-bacterial osteomyelitis in our center. METHODS: We conducted a retrospective review of medical records. A previously proposed classification was implemented as follows: chronic recurrent multifocal osteomyelitis (CRMO), chronic non-bacterial osteomyelitis (CNBO) and acute non-bacterial osteomyelitis. RESULTS: Four females and three males with a median age at presentation of 6 years (6 months-14 years) presented with arthralgia (7/7), back pain (4/7), arthritis (4/7) and bone pain (2/7)...
November 9, 2016: International Journal of Rheumatic Diseases
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