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المؤلفMoltrasio, Chiara
المؤلفCagliani, Rachele
المؤلفSironi, Manuela
المؤلفClerici, Mario
المؤلفPontremoli, Chiara
المؤلفMaronese, Carlo Alberto
المؤلفTricarico, Paola Maura
المؤلفCrovella, Sergio
المؤلفMarzano, Angelo Valerio
تاريخ الإتاحة2023-01-29T06:01:49Z
تاريخ النشر2023-01-11
اسم المنشورVaccines
المعرّفhttp://dx.doi.org/10.3390/vaccines11010162
الاقتباسMoltrasio, C.; Cagliani, R.; Sironi, M.; Clerici, M.; Pontremoli, C.; Maronese, C.A.; Tricarico, P.M.; Crovella, S.; Marzano, A.V. Autoinflammation in Syndromic Hidradenitis Suppurativa: The Role of AIM2. Vaccines 2023, 11, 162. https://doi.org/10.3390/vaccines11010162
معرّف المصادر الموحدhttp://hdl.handle.net/10576/38986
الملخصAIM2 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.
راعي المشروعThis work was supported by a Starting Grant (SG-2019- 12369421) founded by the Italian Ministry of Health.
اللغةar
الناشرMDPI
الموضوعAIM2
autoinflammation
hidradenitis suppurativa
innate immunity
syndromic autoinflammatory skin diseases
العنوانAutoinflammation in Syndromic Hidradenitis Suppurativa: The Role of AIM2.
النوعReport
رقم العدد1
رقم المجلد11
ESSN2076-393X
dc.accessType Open Access


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