An interferonopathy associated with a monoallelic variant in TRIM28. (PubMed, Pediatr Rheumatol Online J) - Oct 24, 2026 - "We describe a novel and severe interferonopathy potentially associated with an autosomal dominant TRIM28 variant with an incomplete penetrance disease model, presenting with skin ulceration, calcinosis, high interferon scores, and upregulation of IRF7. Pathogenicity was supported by TRIM28 gene silencing in healthy HDFCs. Polymorphisms in other genes such as ITGAM could modulate penetrance and expressivity."
Journal • Interferonopathies • Lipodystrophy • Metabolic Disorders • IFNB1 • IRF7 • ITGAM • TRIM28
|
|
Charalampia Papadopoulou; Darragh Duffy; Ebun Omoyinmi; Fionnuala McMorrow; Florence Adams; Gillian Rice; Glenn Anderson; J A Melo Gomes; Luis Seabra; Paul Brogan; Sonia Melo Gomes; Vincent Bondet; Ying Hong
|