49 Early-Onset Common Variable Immunodeficiency in a Patient with Heterozygous Variants in Interferon Response-Associated Genes TRAF3 and IRF4
Le, Kim My, Mamia, Nanni, Kaustio, Meri, Keskitalo, Salla, Kettunen, Kaisa, Kere, Juha, Varjosalo, Markku, Seppanen, Mikko, Martelius, Timi, Saarela, Janna, Gronholm, Juha
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
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A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
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
Published in Science translational medicine (18.09.2024)
Published in Science translational medicine (18.09.2024)
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Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling
Tuovinen, Elina A., Pöysti, Sakari, Hamdan, Firas, Le, Kim My, Keskitalo, Salla, Turunen, Tanja, Minier, Léa, Mamia, Nanni, Heiskanen, Kaarina, Varjosalo, Markku, Cerullo, Vincenzo, Kere, Juha, Seppänen, Mikko R. J., Hänninen, Arno, Grönholm, Juha
Published in Journal of clinical immunology (01.02.2023)
Published in Journal of clinical immunology (01.02.2023)
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