Search results for "autoinflammatory disease"
showing 7 items of 27 documents
Il Manifesto delle malattie autoinfiammatorie rare: uno strumento educazionale per promuovere la conoscenza e migliorare la gestione di queste malatt…
2021
Ankylosing spondylitis: an autoimmune or autoinflammatory disease?
2021
Ankylosing spondylitis (AS) is a chronic inflammatory disease with hallmarks of both autoimmune and autoinflammatory pathology. In this Review, the authors examine the evidence for both disease processes and aim to reconcile the two.Ankylosing spondylitis (AS) is a chronic inflammatory disorder of unknown aetiology. Unlike other systemic autoimmune diseases, in AS, the innate immune system has a dominant role characterized by aberrant activity of innate and innate-like immune cells, including gamma delta T cells, group 3 innate lymphoid cells, neutrophils, mucosal-associated invariant T cells and mast cells, at sites predisposed to the disease. The intestine is involved in disease manifesta…
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
2017
PubMed ID: 29047407
Chronic spontaneous urticaria or autoinflammatory disease? The therapeutic effect of omalizumab in a pediatric patient.
2018
Chronic spontaneous urticaria (CSU) is a clinical condition characterized by spontaneous or inducible recurrent wheals. This condition may significantly affect quality of life of patients and of their families. Etiology is not identified in 25-85% of cases that are indicated as 'idiopathic', because all diagnostic tests are negative. Autoimmune processes may be present in 30-50% of patients, although a definite etiological diagnosis is seldom possible. Some patients, in fact, have autoantibodies against the high-affinity IgE receptor FceR1 or IgE. These patients show an increased incidence of anti-thyroid autoantibodies and represent 30-50% of the patients designated as having CSU. Familial…
INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry
2021
Contains fulltext : 231528.pdf (Publisher’s version ) (Closed access) BACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking. OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses. METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classifica…
P03-010-B - A novel mutation in MEFV gene is not enough
2013
Genotype-phenotype correlation is still challenging in FMF patients especially when the disease is part of a complex autoinflammatory disease.
Early Treatment of Systemic Juvenile Idiopathic Arthritis with Canakinumab and Complete Remission After 2 Years of Treatment Suspension: Case Report …
2019
Systemic juvenile idiopathic arthritis (sJIA) is an autoinflammatory disease characterised by fever and arthritis. We describe the case of a 14-year-old girl hospitalised with fever associated with rash, myalgia, arthralgia and polyarticular involvement. Examinations revealed increased levels of C-reactive protein, erythrocyte sedimentation rate, ferritin, triglycerides, leukocytes, neutrophils, lactate dehydrogenase, fibrinogen, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT). Bone marrow biopsy showed polyclonal leukocyte activation. A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of…