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New diseases linked to MEFV variants or pyrinopathies.
J Allergy Clin Immunol Pract
December 2024
Sorbonne University, Department of Internal Medicine, DMU3ID, Hôpital Tenon, Assistance publique-hôpitaux de Paris (AP-HP), 4 rue de la Chine, 75020 Paris, France; Reference Center for Autoinflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA). Electronic address:
Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response.
View Article and Find Full Text PDFPyrin-associated autoinflammation with neutrophilic dermatosis: A case report.
J Dermatol
December 2024
Department of Dermatology, Virgen del Rocio University Hospital, Seville, Spain.
Pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND) is a rare, monogenic, autoinflammatory disorder caused by mutations in exon 2 of the MEFV gene. Characterized by neutrophilic dermatosis, recurrent fever, and arthralgia, this syndrome presents a diagnostic challenge due to its low prevalence and varied clinical manifestations. Here, we present the case of a 49-year-old Spanish male with severe hidradenitis suppurativa and pyoderma gangrenosum with a heterozygous variant (p.
View Article and Find Full Text PDFRecent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.
J Clin Immunol
December 2023
Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, 3590, Diepenbeek, Belgium.
Pyrin is a cytosolic protein encoded by the MEFV gene, predominantly expressed in innate immune cells. Upon activation, it forms an inflammasome, a multimolecular complex that enables the activation and secretion of IL-1β and IL-18. In addition, the Pyrin inflammasome activates Gasdermin D leading to pyroptosis, a highly pro-inflammatory cell death.
View Article and Find Full Text PDFPyrin-associated autoinflammatory disease with p.Thr577Ala MEFV somatic mutation.
Eur J Intern Med
February 2024
Sorbonne University, AP-HP, Tenon hospital, Department of Internal Medicine, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), GRC-28, Paris, France. Electronic address:
Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.
mBio
October 2023
Department of Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA.
Pyrin, a unique cytosolic receptor, initiates inflammatory responses against RhoA-inactivating bacterial toxins and effectors like YopE and YopT. Understanding pyrin regulation is crucial due to its association with dysregulated inflammatory responses, including Familial Mediterranean Fever (FMF), linked to pyrin gene mutations. FMF mutations historically acted as a defense mechanism against plague.
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