Articles with "autoinflammatory diseases" as a keyword



Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG)

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Published in 2019 at "Rheumatology International"

DOI: 10.1007/s00296-019-04478-3

Abstract: To define the spectrum and phenotypic characteristics of systemic autoinflammatory diseases (SAIDs) other than familial Mediterranean fever (FMF) in Arab children and to delineate diagnostic evaluation. Data retrospectively collected on patients with clinical and/or genetically… read more here.

Keywords: diagnostic evaluation; familial mediterranean; systemic autoinflammatory; autoinflammatory diseases ... See more keywords
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Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases

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Published in 2020 at "Clinical Rheumatology"

DOI: 10.1007/s10067-020-05492-8

Abstract: The clinicians initially prefer to define patients with the systemic autoinflammatory disease (SAID)’s based on recommended clinical classification criteria; then, they confirm the diagnosis with genetic testing. We aimed to compare the initial phenotypic diagnoses… read more here.

Keywords: diagnosis; autoinflammatory diseases; clinical diagnostic; panel ... See more keywords

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity

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Published in 2025 at "Journal of Clinical Immunology"

DOI: 10.1007/s10875-025-01907-w

Abstract: Autoinflammatory diseases (AIDs) are a group of disorders caused by a dysregulation of the innate immune system, among which inflammasomopathies are characterized by recurrent episodes of fever associated with systemic inflammation and organ involvement. Gain-of-function… read more here.

Keywords: somatic mosaic; mosaic; mosaicism levels; mosaicism ... See more keywords

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

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Published in 2017 at "Nature Immunology"

DOI: 10.1038/ni.3777

Abstract: Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and immunological entities caused by dysregulation in the innate immune system. Since then, advances in genomic techniques have led to the identification of… read more here.

Keywords: diseases define; monogenic autoinflammatory; autoinflammatory diseases; new pathways ... See more keywords

TNF receptor signalling in autoinflammatory diseases.

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Published in 2019 at "International immunology"

DOI: 10.1093/intimm/dxz024

Abstract: Autoinflammatory syndromes are a group of disorders characterised by recurring episodes of inflammation as a result of specific defects in the innate immune system. Patients with autoinflammatory disease present with recurrent outbreaks of chronic systemic… read more here.

Keywords: receptor signalling; signalling autoinflammatory; tnf receptor; autoinflammatory diseases ... See more keywords
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Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.

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Published in 2022 at "Rheumatology"

DOI: 10.1093/rheumatology/keac712

Abstract: Autoinflammatory diseases (AIDs) are defined as disorders of innate immunity. They were initially defined in contrast to autoimmune diseases because of the lack of involvement of the adaptive immune system and circulating autoantibodies. The four… read more here.

Keywords: algorithms monogenic; autoinflammatory diseases; monogenic aids; diagnostic therapeutic ... See more keywords
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Vasculitis in the autoinflammatory diseases

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Published in 2017 at "Current Opinion in Rheumatology"

DOI: 10.1097/bor.0000000000000347

Abstract: Purpose of review This article addresses the prevalence and relationship between autoinflammatory diseases and vasculitis. Recent findings Autoimmune diseases (AIDs) are a group of syndromes characterized by episodes of unprovoked inflammation due to dysregulation of… read more here.

Keywords: vasculitis; autoinflammatory diseases; diseases vasculitis; vasculitis autoinflammatory ... See more keywords

Vasculitis in autoinflammatory diseases.

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Published in 2025 at "Current opinion in rheumatology"

DOI: 10.1097/bor.0000000000001120

Abstract: PURPOSE OF REVIEW This review aims to explore the relationship between autoinflammatory diseases (AIDs) and vasculitis, with a focus on recently identified syndromes and newly published data since 2016. RECENT FINDINGS While the connection between… read more here.

Keywords: vasculitis autoinflammatory; vasculitis; autoinflammatory diseases; rheumatology ... See more keywords

Autoinflammatory syndromes: Recent data from the international aida network registries

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Published in 2025 at "Acta Ophthalmologica"

DOI: 10.1111/aos.16885

Abstract: Correspondence to: Dr Claudia Fabiani, Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero‐Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Policlinico “Le… read more here.

Keywords: autoinflammatory; alliance aida; aida network; network ... See more keywords
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Diagnostic value of skin biopsy in autoinflammatory diseases for patients with recurrent fever and urticarial eruption

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Published in 2020 at "Clinical and Experimental Dermatology"

DOI: 10.1111/ced.14508

Abstract: Recurrent fever is defined by two episodes of fever separated by a free interval of at least two weeks.1 Diseases causing recurrent fever may be classified into three categories: infections, neoplasia, and non-infectious inflammations. Recurrent… read more here.

Keywords: recurrent fever; urticarial eruption; diagnostic value; autoinflammatory diseases ... See more keywords

Autoimmune and autoinflammatory diseases with mucocutaneous manifestations: A pediatric rheumatology perspective

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Published in 2022 at "International Journal of Dermatology"

DOI: 10.1111/ijd.16352

Abstract: The presence of mucocutaneous manifestations has clinical significance, as it may be a part of the initial presentation or activation stage of both autoimmune and autoinflammatory rheumatic diseases. The cutaneous signs may display a particular… read more here.

Keywords: mucocutaneous manifestations; rheumatology; rheumatic diseases; dermatology ... See more keywords