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   Articles with "autoinflammatory" as a keyword



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An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7

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recommendations! Published in 2021 at "Journal of Clinical Immunology"

DOI: 10.1007/s10875-021-01161-w

Abstract: The NLRP3 inflammasome is a vital mediator of innate immune responses. There are numerous NLRP3 mutations that cause NLRP3-associated autoinflammatory diseases (NLRP3-AIDs), mostly in or around the NACHT domain. Here, we present a patient with… read more here.

Keywords: autoinflammatory; lrr domain; mutation; domain nlrp3 ... See more keywords

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

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recommendations! Published in 2020 at "Immunity"

DOI: 10.1016/j.immuni.2020.07.006

Abstract: Summary Autoinflammatory disease can result from monogenic errors of immunity. We describe a patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of-function mutation (S703I) in JAK1, encoding a kinase essential for signaling downstream… read more here.

Keywords: syndrome unveils; complex autoinflammatory; autoinflammatory; unveils fundamental ... See more keywords
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How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?

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recommendations! Published in 2019 at "Presse medicale"

DOI: 10.1016/j.lpm.2018.08.015

Abstract: The systemic autoinflammatory disorders (SAIDs) are associated with dysregulation of the innate immune system, affecting pro-inflammatory cytokines and apoptosis pathways. The spectrum of SAIDs continues to grow with over 30 different disorders identified to date.… read more here.

Keywords: diagnosis autoinflammatory; diagnosis; prescribe genetic; genetic test ... See more keywords

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

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recommendations! 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

Selective activation of pro-anti-IL-1β antibody enhances specificity for autoinflammatory disorder therapy

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recommendations! Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-94298-y

Abstract: Canakinumab is a fully human monoclonal antibody that specifically neutralizes human interleukin (IL)-1β and has been approved by the US Food and Drug Administration for treating different types of autoinflammatory disorders such as cryopyrin-associated periodic… read more here.

Keywords: selective activation; antibody; canakinumab; autoinflammatory ... See more keywords

Chronic urticaria and autoinflammatory syndromes.

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recommendations! Published in 2025 at "Current opinion in allergy and clinical immunology"

DOI: 10.1097/aci.0000000000001093

Abstract: PURPOSE OF REVIEW This review provides an updated overview of the association between chronic urticaria (CU) and autoinflammatory syndromes (AS), underlining the diagnostic and therapeutic implications of identifying CU as an initial manifestation of systemic… read more here.

Keywords: autoinflammatory; immunology; urticaria autoinflammatory; autoinflammatory syndromes ... See more keywords

Autoinflammatory syndromes: Recent data from the international aida network registries

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recommendations! 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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PAPASH, PsAPASH and PASS autoinflammatory syndromes: phenotypic heterogeneity, common biological signature and response to immunosuppressive regimens

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recommendations! Published in 2019 at "British Journal of Dermatology"

DOI: 10.1111/bjd.18003

Abstract: Hidradenitis suppurativa (HS) is a chronic inflammatory disease of skin appendages, commonly associating with other conditions including spondyloarthritis, and is a major component of severe cutaneo-articular autoinflammatory syndromes (AIS), called PAPASH (Pyogenic Arthritis, pyoderma gangrenosum/PG,… read more here.

Keywords: autoinflammatory syndromes; papash psapash; pass autoinflammatory; autoinflammatory ... See more keywords

PASS: a rare syndrome within the autoinflammatory diseases that still lacks a genetic marker

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recommendations! Published in 2020 at "Journal of the European Academy of Dermatology and Venereology"

DOI: 10.1111/jdv.16385

Abstract: Several syndromes differently associating acne, pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and various articular manifestations have been described that belong to the spectrum of autoinflammatory syndromes (AIS), including PASH (PG, Acne, SH), PAPA (Pyogenic Arthritis,… read more here.

Keywords: pass rare; syndrome within; within autoinflammatory; pass ... See more keywords
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OP0083 INFECTIOUS AND AUTOINFLAMMATORY MODIC TYPE 1 CHANGES HAVE DIFFERENT PATHOMECHANISMS

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recommendations! Published in 2021 at "Annals of the Rheumatic Diseases"

DOI: 10.1136/annrheumdis-2021-eular.825

Abstract: Modic type 1 changes (MC1) are vertebral bone marrow (BM) edema that associate with non-specific low back pain (LBP). Two etiologies have been described. In the infectious etiology the anaerobic aerotolerant Cutibacterium acnes (C. acnes)… read more here.

Keywords: autoinflammatory; autoinflammatory etiology; mc1; control ... See more keywords

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases

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recommendations! Published in 2017 at "RMD Open"

DOI: 10.1136/rmdopen-2017-000550

Abstract: At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases… read more here.

Keywords: subgroup; autoimmune autoinflammatory; rheumatoid arthritis; autoinflammatory ... See more keywords