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https://www.readbyqxmd.com/read/28538744/comorbidities-of-hidradenitis-suppurativa
#1
Martina L Porter, Alexa B Kimball
Hidradenitis suppurativa (HS) is an inflammatory skin disorder with many associated comorbidities, including obesity, metabolic syndrome, smoking, depression, arthritis, autoinflammatory syndromes, inflammatory bowel disease, and genetic syndromes. In addition, HS patients can suffer from a variety of diseases related to the chronic inflammatory nature of their HS such as cardiovascular disease and anemia. An understanding of these comorbidities and associations is essential for the management of HS, and routine screening for these entities should be considered in all HS patients...
June 2017: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28528454/new-insights-into-pericarditis-mechanisms-of-injury-and-therapeutic-targets
#2
REVIEW
Bo Xu, Serge C Harb, Paul C Cremer
PURPOSE OF REVIEW: This review article aims to provide a contemporary insight into the pathophysiological mechanisms of and therapeutic targets for pericarditis, drawing distinction between autoinflammatory and autoimmune pericarditis. RECENT FINDINGS: Recent research has focused on the distinction between autoinflammatory and autoimmune pericarditis. In autoinflammatory pericarditis, viruses can activate the sensor molecule of the inflammasome, which results in downstream release of cytokines, such as interleukin-1, that recruit neutrophils and macrophages to the site of injury...
July 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28500690/tnf-receptor-associated-periodic-syndrome-traps-mimicking-chronic-spontaneous-urticaria
#3
S Aurich, J C Simon, R Treudler
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a rare (about one per million) autosomal dominant autoinflammatory disease being typically characterized by recurrent fever episodes accompanied by variable gastrointestinal, musculoskeletal, neurological, lymphoid, urogenital and skin symptoms (table 1) [1-3]. We report on a 21 year old non atopic male with prediagnosed IgA deficiency, Marfan syndrome and hypothyroidism who first presented in our university allergy centre with three year history of antihistamine resistant, only slightly itching urticarial rash being accompanied by fatigue...
May 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28497352/monogenic-periodic-fever-syndromes-treatment-options-for-the-pediatric-patient
#4
REVIEW
Seza Ozen, Selcan Demir
Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD)...
May 11, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28497222/interleukin-1-blockade-an-update-on-emerging-indications
#5
REVIEW
Anoop Mistry, Sinisa Savic, Jeroen C H van der Hilst
Interleukin (IL)-1 is a pro-inflammatory cytokine that induces local and systemic inflammation aimed to eliminate microorganisms and tissue damage. However, an increasing number of clinical conditions have been identified in which IL-1 production is considered inappropriate and IL-1 is part of the disease etiology. In autoinflammatory diseases, gout, Schnitzler's syndrome, and adult-onset Still's disease, high levels of inappropriate IL-1 production have been shown to be a key process in the etiology of the disease...
May 11, 2017: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
https://www.readbyqxmd.com/read/28454496/canakinumab-for-the-treatment-of-tnf-receptor-associated-periodic-syndrome
#6
F La Torre, M C Caparello, R Cimaz
TNF-receptor-associated periodic syndrome is an autoinflammatory disorder caused by mutations in TNF receptor superfamily 1A gene. The molecular pathogenesis of TRAPS remains unclear; it is known that a key role is played by mutations in TNFRSF1A that induce the hypersecretion of pro-inflammatory cytokines as well as IL-1β, resulting in uncontrolled inflammatory reactions. Furthermore, TNFRSF1A gene mutations result in intracellular stress ultimately leading to increased production of interleukin-1β, but the exact mechanism referred to in the connection between TNFRSF1A mutation and increased release of IL-1β, is still under study...
June 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28442130/autoinflammatory-diseases-in-pediatric-dermatology-part-1-urticaria-like-syndromes-pustular-syndromes-and-mucocutaneous-ulceration-syndromes
#7
S Hernández-Ostiz, L Prieto-Torres, G Xirotagaros, L Noguera-Morel, Á Hernández-Martín, A Torrelo
Monogenic autoinflammatory diseases are a heterogeneous emergent group of conditions that are currently under intensive study. We review the etiopathogenesis of these syndromes and their principal manifestations. Our aim is to propose a classification system based on the clinicopathologic features of typical skin lesions for routine clinical use in dermatology. Our focus is on diagnosis in pediatric practice given that this is the period when the signs and symptoms of these syndromes first appear. In Part 1 we discuss the course of urticaria-like syndromes, which include cryopyrin-associated periodic conditions and hereditary periodic fever syndromes...
April 23, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28440359/ultrasonographic-findings-in-hyperimmunoglobulin-d-syndrome-a-case-report
#8
Laura Otilia Damian, Otilia Fufezan, Mihaela Farcău, Simona Tătar, Călin Lazăr, Dorin-Ioan Farcău
Hyperimmunoglobulin D syndrome due to mevalonate kinase deficiency is a rare autoinflammatory disease with digestive tract involvement. We report an 11-year female child who has presented since the age of 1 year, bouts of fever, rash, joint swelling, pulmonary consolidation, lymph node involvement and hepatosplenomegaly. Hyperimmunglobulin D and increased urinary mevalonic acid were detected. The ultrasonographic features of hepatosplenomegaly ranged from increment in size to pseudotumoral involvement, with hypoechogenic masses without apparent wall...
April 22, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28438265/autoinflammatory-diseases-in-pediatric-dermatology-part-2-histiocytic-macrophage-activation-and-vasculitis-syndromes
#9
S Hernández-Ostiz, G Xirotagaros, L Prieto-Torres, L Noguera-Morel, A Torrelo
The discovery of new autoinflammatory syndromes and novel mutations has advanced at breakneck speed in recent years. Part 2 of this review focuses on vasculitis syndromes and the group of histiocytic and macrophage activation syndromes. We also include a table showing the mutations associated with these autoinflammatory syndromes and treatment alternatives.
April 21, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28427379/novel-mutation-identified-in-severe-early-onset-tumor-necrosis-factor-receptor-associated-periodic-syndrome-a-case-report
#10
Suhas M Radhakrishna, Amy Grimm, Lori Broderick
BACKGROUND: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is the second most common heritable autoinflammatory disease, typically presenting in pre-school aged children with fever episodes lasting 1-3 weeks. Systemic symptoms can include rash, myalgia, ocular inflammation, and serositis. CASE PRESENTATION: Here we report an unusual presentation of TRAPS in a 7 month old girl who presented with only persistent fever. She was initially diagnosed with incomplete Kawasaki Disease and received IVIG and infliximab; however, her fevers quickly recurred...
April 20, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28413100/colchicine-resistance-and-intolerance-in-familial-mediterranean-fever-definition-causes-and-alternative-treatments
#11
REVIEW
Seza Ozen, Isabelle Kone-Paut, Ahmet Gül
BACKGROUND: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory syndrome characterized by recurrent serositis or arthritis attacks and, in some patients, chronic subclinical inflammation that predisposes to secondary amyloidosis. Colchicine is the gold standard of treatment, which reduces attack frequency and amyloidosis risk. However, up to 5% of patients are considered resistant or inadequately respond to colchicine, and some others cannot tolerate the side effects of effective doses of colchicine (colchicine intolerant)...
March 20, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28403691/novel-nlrc4-mutation-causes-a-syndrome-of-perinatal-autoinflammation-with-hemophagocytic-lymphohistiocytosis-hepatosplenomegaly-fetal-thrombotic-vasculopathy-and-congenital-anemia-and-ascites
#12
Jiancong Liang, Danielle N Alfano, James E Squires, Melissa M Riley, W Tony Parks, Julia Kofler, Areeg El-Gharbawy, Suneeta Madan-Kheterpal, Roxanne Acquaro, Jennifer Picarsic
Autoinflammatory diseases are caused by pathologic activation of the innate immune system. Primary hemophagocytic lymphohistiocytosis (HLH) is an aggressive syndrome of excessive immune activation caused by monogenic mutations resulting in cytotoxic cell defects and subsequent failure to eliminate activated macrophages. Secondary HLH is often diagnosed in cases without a known Mendelian inheritance. However, some cases of "secondary" HLH have been shown to harbor mutations with partial dysfunction of the cytotoxic system...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28396659/disease-phenotype-and-outcome-depending-on-the-age-at-disease-onset-in-patients-carrying-the-r92q-low-penetrance-variant-in-tnfrsf1a-gene
#13
Estíbaliz Ruiz-Ortiz, Estíbaliz Iglesias, Alessandra Soriano, Segundo Buján-Rivas, Marta Español-Rego, Raul Castellanos-Moreira, Adrià Tomé, Jordi Yagüe, Jordi Antón, José Hernández-Rodríguez
BACKGROUND: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease caused by mutations in the TNFRSF1A gene. R92Q, a low-penetrance variant, is usually associated with a milder TRAPS phenotype than structural or pathogenic mutations. No studies differentiating R92Q-related disease in patients with pediatric and adult onset have been performed to date. OBJECTIVE: To analyze clinical features and disease outcomes in patients diagnosed with TRAPS associated with R92Q variant and to investigate differences between patients with pediatric and adult disease onset...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28387826/clinical-update-on-inflammasomopathies
#14
Hafize Emine Sönmez, Seza Özen
Inflammasomes are important elements of the innate immune defense. The most common autoinflammatory syndromes, as well a number of rare ones, are due to hereditary defects in the inflammasomes, hence are called inflammasomopathies. The recent clinical advances in these diseases will be reviewed, with special emphasis on reflecting the international collaborative work in the field. Recent recommendations for familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS) and hyper-IgD syndrome (HIDS) / mevalonate kinase deficiency (MKD) will be presented and diagnostics tests, treatment alternatives, and follow-up recommendations will be summarized...
April 6, 2017: International Immunology
https://www.readbyqxmd.com/read/28382039/genetic-and-epigenetic-determinants-in-autoinflammatory-diseases
#15
REVIEW
Damiana Álvarez-Errico, Roser Vento-Tormo, Esteban Ballestar
The concept of autoinflammation has evolved over the past 20 years, beginning with the discovery that mutations in the Mediterranean Fever (MEFV) gene were causative of Familial Mediterranean Fever. Currently, autoinflammatory diseases comprise a wide range of disorders with the common features of recurrent fever attacks, prevalence of hyperreactive innate immune cells, and signs of inflammation that can be systemic or organ specific in the absence of pathogenic infection of autoimmunity. Innate immune cells from the myeloid compartment are the main effectors of uncontrolled inflammation that is caused in great extent by the overproduction of inflammatory cytokines such as IL-1β and IL-18...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28381287/munchausen-by-proxy-syndrome-mimicking-systemic-autoinflammatory-disease-case-report-and-review-of-the-literature
#16
Helmut Wittkowski, Claas Hinze, Sigrid Häfner-Harms, Vinzenz Oji, Katja Masjosthusmann, Martina Monninger, Ulrike Grenzebach, Dirk Foell
BACKGROUND: Systemic autoinflammatory diseases (SAIDs) represent a growing number of monogenic, polygenic or multifactorial disorders that are often difficult to diagnose. CASE PRESENTATION: Here we report a patient who was initially erroneously diagnosed and treated for SAID. Symptoms consisted of recurrent fever, erythematous and/or blistering skin lesions, angioedema, susceptibility to bleeding, external ear infections and reversible anisocoria in the absence of laboratory evidence of systemic inflammation...
April 5, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28362189/canakinumab-for-the-treatment-of-familial-mediterranean-fever
#17
Huri Ozdogan, Serdal Ugurlu
Familial Mediterranean fever (FMF) is the most frequent of all hereditary autoinflammatory syndromes. It is characterized by recurrent attacks of fever and serositis. If not treated it may be complicated with AA amyloidosis. It is caused by mutations in the MEFV gene that encodes pyrin which is involved in the regulation of IL-1β. The mainstay of treatment is colchicine, however a subset of patients requires an alternative treatment either due to inadequate response or intolerance. The accumulating data indicates that anti IL-1 drugs are effective in treating colchicine resistant FMF cases and improving their quality of life...
April 10, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28361334/chronic-recurrent-multifocal-osteomyelitis-and-related-diseases-update-on-pathogenesis
#18
REVIEW
Allison J Cox, Yongdong Zhao, Polly J Ferguson
PURPOSE OF REVIEW: We focus on recent advances in the understanding of the genetic, molecular, immunologic, and environmental factors implicated in the pathogenesis of autoinflammatory bone diseases including the syndromic and non-syndromic forms of chronic recurrent multifocal osteomyelitis (CRMO). RECENT FINDINGS: Evidence implicating the IL-1 pathway in the pathogenesis of the Mendelian forms of CRMO is growing. LIPIN2 can regulate the NLRP3 inflammasome by affecting P2X7 receptor activation, and intracellular cholesterol can modulate P2X7R currents...
April 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28361096/clinical-dose-effect-and-functional-consequences-of-r92q-in-two-families-presenting-with-a-traps-pfapa-like-phenotype
#19
Sylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, Jérôme Pène, Cécile Rittore, Elodie Sanchez, Marie-Caroline Chastang, Gaël Guyon, Pascal Pillet, Isabelle Touitou
BACKGROUND: TNF receptor-associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the TNFRSF1A gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.Arg121Gln) is unclear and is of critical importance for patient care and genetic counseling. This study evaluated the impact of the number of R92Q mutations in two unique unrelated families. METHODS: Two patients with undefined but clear autoinflammatory symptoms were referred for genetic diagnosis...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28345207/autoinflammatory-syndromes-associated-with-hidradenitis-suppurativa-and-or-acne
#20
REVIEW
Caroline Vinkel, Simon F Thomsen
Autoinflammatory syndromes associated with hidradenitis suppurativa (HS) and/or acne are rare but potentially debilitating disorders if not diagnosed and treated correctly. They share a common pathogenesis involving a dysregulated innate immune system with abnormal interleukin (IL)-1 signaling leading to sterile neutrophilic inflammation. The clinical features are recurrent episodes of fever, painful arthritis, and skin lesions consistent with HS, acne, and pyoderma gangrenosum (PG) accompanied by elevated systemic inflammatory markers in blood...
March 27, 2017: International Journal of Dermatology
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