ArticleAnnals of the rheumatic diseases2017
A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.
Article in Annals of the rheumatic diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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60 citing papers in PubMed, 146 citations in OpenAlex.
- Advances in targeting IL-1 family cytokines for the treatment of inflammatory diseases.Nature reviews. Rheumatology · 2026Review
- Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.Nature immunology · 2026Article
- Elevated Levels of IL-1Ra, IL-1β, and Oxidative Stress in COVID-19: Implications for Inflammatory Pathogenesis.Journal of clinical medicine · 2025Article
- Inflammasome components as new therapeutic targets in inflammatory disease.Nature reviews. Immunology · 2025Review
- Bioinformatics-based screening and validation of PANoptosis-related biomarkers in periodontitis.Frontiers in cell and developmental biology · 2025Article
- The journey of MEFV heterozygous children: with or without colchicine.European journal of pediatrics · 2024Article
- The interplay of transition metals in ferroptosis and pyroptosis.Cell division · 2024Review
- Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients.Clinical rheumatology · 2024Article
- Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.Rheumatology (Oxford, England) · 2024Article
- Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.Journal of clinical immunology · 2023Review
- A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.JCI insight · 2023Article
- Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.Cell death & disease · 2023Article
- The role of pyroptosis in inflammatory diseases.Frontiers in cell and developmental biology · 2023Review
- The Expanding Spectrum of Autoinflammatory Diseases.Internal medicine (Tokyo, Japan) · 2023Article
- The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.Frontiers in immunology · 2023Review
- Inducing Pyroptosis Via the Pyrin Inflammasome.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation.Fundamental research · 2022Review
- Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.Pediatric rheumatology online journal · 2022Review
- Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.Cell reports · 2022Article
- Does Pyroptosis Play a Role in Inflammasome-Related Disorders?International journal of molecular sciences · 2022Review
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
Abstract
objectivePyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R
methodsMultiplex cytokine analyses were performed on p.E244K patient and control serum. Peripheral blood mononuclear cells were stimulated ex vivo with lipopolysaccharide (LPS). In vitro, inflammasome complex formation was evaluated by flow cytometry of Apoptosis-associated Speck-like protein containing a Caspase recruitment domain (ASC) specks. Interleukin-1β (IL-1β) and IL-18 production was quantified by ELISA. The ability of the p.E244K pyrin mutation to interact with 14-3-3 was assessed by immunoprecipitation.
resultsPAAND p.E244K patient serum displayed a different cytokine profile compared with patients with Familial Mediterranean Fever (FMF). In overexpression models, p.E244K pyrin was associated with decreased 14-3-3 binding and increased ASC speck formation. THP-1 monocytes expressing PAAND pyrin mutations demonstrated spontaneous caspase-1-dependent IL-1β and IL-18 secretion, as well as cell death, which were significantly greater than those of wild-type and the FMF-associated mutation p.M694V.
conclusionIn PAAND, disruption of the +2 position of a 14-3-3 binding motif in pyrin results in its constitutive activation, with spontaneous production of IL-1β and IL-18, associated with inflammatory cell death. The altered serum cytokine profile may explain the different clinical features exhibited by PAAND patients compared with those with FMF.
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