Search Results - "Jesus, Adriana Almeida de"
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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
Published in The Journal of clinical investigation (01-11-2015)“…Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease…”
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Identification of Distinct Inflammatory Programs and Biomarkers in Systemic Juvenile Idiopathic Arthritis and Related Lung Disease by Serum Proteome Analysis
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-07-2022)“…Objective Recent observations in systemic juvenile idiopathic arthritis (JIA) suggest an increasing incidence of high‐mortality interstitial lung disease often…”
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Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations
Published in Frontiers in pediatrics (06-05-2022)“…In this article we revised the literature on Inborn Errors of Immunity (IEI) keeping our focus on those diseases presenting with intrauterine or perinatal…”
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Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches
Published in Advances in rheumatology (London, England) (22-08-2024)“…Systemic autoinflammatory diseases (SAIDs) arise from dysregulated innate immune system activity, which leads to systemic inflammation. These disorders,…”
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Establishing 20S Proteasome Genetic, Translational and Post-Translational Status from Precious Biological and Patient Samples with Top-Down MS
Published in Cells (Basel, Switzerland) (01-03-2023)“…The mammalian 20S catalytic core of the proteasome is made of 14 different subunits (α1-7 and β1-7) but exists as different subtypes depending on the cell…”
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Molecular Mechanisms in Genetically Defined Autoinflammatory Diseases: Disorders of Amplified Danger Signaling
Published in Annual review of immunology (01-01-2015)“…Patients with autoinflammatory diseases present with noninfectious fever flares and systemic and or disease-specific organ inflammation. Their excessive…”
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Monogenic autoinflammatory diseases: Concept and clinical manifestations
Published in Clinical immunology (Orlando, Fla.) (01-06-2013)“…Abstract The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including…”
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Treatment of anti-MDA5 autoantibody-positive juvenile dermatomyositis using tofacitinib
Published in Brain (London, England : 1878) (01-11-2019)Get full text
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Monogenic Autoinflammatory Diseases
Published in Rheumatic diseases clinics of North America (01-11-2013)“…The pathogenesis of monogenic autoinflammatory diseases converges on the presence of exaggerated immune responses that are triggered through activation of…”
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Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion
Published in Journal of clinical immunology (01-08-2024)Get full text
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Clinical and Immunologic Evaluation of 31 Patients with Acute Schistosomiasis mansoni
Published in The Journal of infectious diseases (01-01-2002)“…Thirty-one patients with acute schistosomiasis were evaluated clinically and immunologically. Cytokine levels were determined in peripheral blood mononuclear…”
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Newly recognized Mendelian disorders with rheumatic manifestations
Published in Current opinion in rheumatology (01-09-2015)“…PURPOSE OF REVIEWWe review newly discovered monogenic immune-dysregulatory disorders that were reported in Pubmed over the last year. RECENT FINDINGSFourteen…”
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Association of Type 2 Cytokines with Hepatic Fibrosis in Human Schistosoma mansoni Infection
Published in Infection and Immunity (01-06-2004)“…Classifications Services IAI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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DDX58 and Classic Singleton-Merten Syndrome
Published in Journal of clinical immunology (01-01-2019)“…Purpose Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture…”
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Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation
Published in Rheumatic diseases clinics of North America (01-11-2013)“…The pathogenesis of monogenic autoinflammatory diseases converges on the presence of exaggerated immune responses that are triggered through activation of…”
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Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience
Published in Frontiers in immunology (19-03-2021)“…Systemic autoinflammatory diseases (SAID) are rare inherited disorders involving genes regulating innate immune signaling and are characterized by periodic or…”
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Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease
Published in Australasian journal of dermatology (01-05-2021)“…Sideroblastic anaemia, B‐cell immunodeficiency, periodic fever and developmental delay (SIFD) is caused by mutations of TRNT1, an enzyme essential for…”
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An immune-based biomarker signature is associated with mortality in COVID-19 patients
Published in JCI insight (11-01-2021)“…Immune and inflammatory responses to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) contribute to disease severity of coronavirus disease 2019…”
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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
Published in The Journal of clinical investigation (01-02-2016)Get full text
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Cytokine Profile Associated with Human Chronic Schistosomiasis Mansoni
Published in Memórias do Instituto Oswaldo Cruz (01-01-2004)“…This study objective was to evaluate the cytokines associated with early events of hepatic fibrosis in schistosomiasis mansoni. Hepatic fibrosis was classified…”
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