Publications by authors named "C Perricone"

Primary Sjögren's syndrome (pSS) is a chronic, systemic autoimmune disease characterized by a wide spectrum of glandular and extra-glandular features. Genetic and epigenetic factors play an important role in the disease susceptibility and phenotype. There are a multitude of genes that have been identified as implicated in the pathogenesis of pSS, both in HLA and extra-HLA regions with a strong contribution given by genes in interferon signalling pathways.

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Alopecia universalis (AU), an advanced form of alopecia areata (AA), is a condition characterized by the complete loss of hair over the entire skin surface. Recent progress has significantly enhanced our understanding of the pathogenesis of AU. In particular, interferon-γ (IFN-γ) and interleukin (IL)-15 seem to play a pivotal role in the pathogenesis of the disease.

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  • Systemic lupus erythematosus (SLE) is a chronic autoimmune disease tied to oxidative stress, which affects mitochondrial DNA (mtDNA) levels and their homeostasis.
  • The study analyzed mtDNA copies and gene expression related to mitochondrial functions in blood cells from SLE patients and healthy individuals, finding significantly lower mtDNA copies and reduced expression of key mitochondrial genes in patients.
  • A positive correlation was identified between the expression of the PRKN2 gene and mtDNA copy number, highlighting the potential link between mitochondrial dysfunction and SLE progression.
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  • Clinical remission is the main goal for managing rheumatoid arthritis (RA), but studies have found that some patients in remission still show signs of synovitis detected by ultrasound.
  • The UPARAREMUS study observed the effects of upadacitinib, a selective Janus kinase 1 inhibitor, showing it resulted in significantly higher rates of remission at 24 weeks compared to other treatments like adalimumab and abatacept.
  • In this study, 63.6% of patients achieved both clinical and ultrasound remission after 24 weeks, with the likelihood of achieving this higher among bio-naïve patients, indicating that the drug may be more effective in patients who haven't received prior biological treatments.
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Inflammatory rheumatic diseases are different pathologic conditions associated with a deregulated immune response, codified along a spectrum of disorders, with autoinflammatory and autoimmune diseases as two-end phenotypes of this continuum. Despite pathogenic differences, inflammatory rheumatic diseases are commonly managed with a limited number of immunosuppressive drugs, sometimes with partial evidence or transferring physicians' knowledge in different patients. In addition, several randomized clinical trials, enrolling these patients, did not meet the primary pre-established outcomes and these findings could be linked to the underlying molecular diversities along the spectrum of inflammatory rheumatic disorders.

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