Article
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Science translational medicine - 18 Sept 2024
Ochoa Sebastian, Hsu Amy P, Oler Andrew J, Kumar Dhaneshwar, Chauss Daniel, van Hamburg Jan Piet, van Laar Gustaaf G, Oikonomou Vasileios, Ganesan Sundar, Ferré Elise M N, Schmitt Monica M, DiMaggio Tom, Barber Princess, Constantine Gregory M, Rosen Lindsey B, Auwaerter Paul G, Gandhi Bhumika, Miller Jennifer L, Eisenberg Rachel, Rubinstein Arye, Schussler Edith, Balliu Erjola, Shashi Vandana, Neth Olaf, Olbrich Peter, Le Kim My, Mamia Nanni, Laakso Saila, Nevalainen Pasi I, Grönholm Juha, Seppänen Mikko R J, Boon Louis, Uzel Gulbu, Franco Luis M, Heller Theo, Winer Karen K, Ghosh Rajarshi, Seifert Bryce A, Walkiewicz Magdalena, Notarangelo Luigi D, Zhou Qing, Askentijevich Ivona, Gahl William, Dalgard Cliffton L, Perera Lalith, Afzali Behdad, Tas Sander W, Holland Steven M, Lionakis Michail S
Abstract excerpt
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-threatening monogenic autoimmune disorder primarily caused by biallelic deleterious variants in the autoimmune regulator (AIRE) gene. We prospectively evaluated 104 patients with clinically diagnosed APECED syndrome and identified 17 patients (16%) from 14 kindreds lacking biallelic AIRE variants in exons or flanking intronic...
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