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    Autoinflammation in Syndromic Hidradenitis Suppurativa: The Role of AIM2.

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    HS_AIM2 (365.7Kb)
    Date
    2023-01-11
    Author
    Moltrasio, Chiara
    Cagliani, Rachele
    Sironi, Manuela
    Clerici, Mario
    Pontremoli, Chiara
    Maronese, Carlo Alberto
    Tricarico, Paola Maura
    Crovella, Sergio
    Marzano, Angelo Valerio
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    Abstract
    AIM2 is a key cytoplasmatic pathogen-sensor that detects foreign DNA from viruses and bacteria; it can also recognize damaged or anomalous presence of DNA, promoting inflammasome assembly and activation with the secretion of IL-1β, thus sustaining a chronic inflammatory state, potentially leading to the onset of autoinflammatory skin diseases. Given the implication of the IL-1β pathway in the pathogenesis of syndromic hidradenitis suppurativa (HS), an autoinflammatory immune-mediated skin condition, the potential involvement of AIM2 was investigated. Sequencing of the whole coding region of the gene, comprising 5'- and 3' UTR and a region upstream of the first exon of ~800 bp was performed in twelve syndromic HS patients. Six out of twelve syndromic HS patients carried a heterozygous variant c.-208 A ≥ C (rs41264459), located on the promoter region of the gene, with a minor allele frequency of 0.25, which is much higher than that reported in 1000 G and GnomAD (0.075 and 0.094, respectively). The same variant was found at a lower allelic frequency in sporadic HS and isolated pyoderma gangrenosum (PG) (0.125 and 0.065, respectively). Our data suggest that this variant might play a role in susceptibility to develop syndromic forms of HS but not to progress to sporadic HS and PG. Furthermore, epigenetic and/or somatic variations could affect AIM2 expression leading to different, context-dependent responses.
    DOI/handle
    http://dx.doi.org/10.3390/vaccines11010162
    http://hdl.handle.net/10576/38986
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    • Biological & Environmental Sciences [‎660‎ items ]

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