An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7
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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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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
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
Sign Up to like & getrecommendations! 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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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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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
PAPASH, PsAPASH and PASS autoinflammatory syndromes: phenotypic heterogeneity, common biological signature and response to immunosuppressive regimens
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
OP0083 INFECTIOUS AND AUTOINFLAMMATORY MODIC TYPE 1 CHANGES HAVE DIFFERENT PATHOMECHANISMS
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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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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
[Autoinflammatory diseases].
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DOI: 10.1556/650.2018.31068
Abstract: Autoinflammatory diseases are disorders of the innate immune system characterized by recurrent systematic inflammation and serious complications. Dysregulation of inflammasome and overproduction of interleukin-1 play a major role in the pathogenesis of autoinflammatory diseases. The… read more here.
Keywords: autoinflammatory; autoinflammatory diseases;
Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease
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DOI: 10.3389/fimmu.2019.00101
Abstract: Monogenic autoinflammatory disorders are a group of conditions defined by systemic or localized inflammation without identifiable causes, such as infection. In contrast to classical primary immunodeficiencies that manifest with impaired immune responses, these disorders are… read more here.
Keywords: biochemistry; autoinflammatory diseases; biochemistry autoinflammatory; autoinflammatory ... See more keywords