A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion

Ochoa, S., Hsu, A. P., Oler, A. J., Kumar, D., Chauss, D., van Hamburg, J. P., van Laar, G. G., Oikonomou, V., Ganesan, S., Ferré, E. M. N., Schmitt, M. M., DiMaggio, T., Barber, P., Constantine, G. M., Rosen, L. B., Auwaerter, P. G., Gandhi, B., Miller, J. L., Eisenberg, R., Rubinstein, A., & 29 othersSchussler, E., Balliu, E., Shashi, V., Neth, O., Olbrich, P., Le, K. M., Mamia, N., Laakso, S., Nevalainen, P. I., Grönholm, J., Seppänen, M. R. J., Boon, L., Uzel, G., Franco, L. M., Heller, T., Winer, K. K., Ghosh, R., Seifert, B. A., Walkiewicz, M., Notarangelo, L. D., Zhou, Q., Askentijevich, I., Gahl, W., Dalgard, C. L., Perera, L., Afzali, B., Tas, S. W., Holland, S. M. & Lionakis, M. S., 18 Sept 2024, In: Science translational medicine. 16, 765, 16 p., eadk0845.

Research output: Contribution to journal › Article › Scientific › peer-review

Characterization of immune cell populations of cutaneous neurofibromas in neurofibromatosis 1

Kallionpää, R. A., Peltonen, S., Le, K. M., Martikkala, E., Jääskeläinen, M., Fazeli, E., Riihilä, P., Haapaniemi, P., Rokka, A., Salmi, M., Leivo, I. & Peltonen, J., Jan 2024, In: Laboratory Investigation. 104, 1, 13 p., 100285.

Research output: Contribution to journal › Article › Scientific › peer-review

Early-Onset Common Variable Immunodeficiency in a Patient with Heterozygous Variants in Interferon Response-Associated Genes TRAF3 and IRF4

Le, K. M., Mamia, N., Kaustio, M., Keskitalo, S., Kettunen, K., Kere, J., Varjosalo, M., Seppänen, M., Martelius, T., Saarela, J. & Grönholm, J., May 2024, In: Clinical Immunology. 262, 3 p., 109991.

Research output: Contribution to journal › Meeting Abstract › peer-review

Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling

Tuovinen, E. A., Pöysti, S., Hamdan, F., Le, K. M., Keskitalo, S., Turunen, T., Minier, L., Mamia, N., Heiskanen, K., Varjosalo, M., Cerullo, V., Kere, J., Seppänen, M. R. J., Hänninen, A. & Grönholm, J., Feb 2023, In: Journal of Clinical Immunology. 43, 2, p. 358–370 13 p.

Research output: Contribution to journal › Article › Scientific › peer-review