Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation

Lima de Souza, S., Asano, T., Glumoff, V., Keskitalo, S., Pikkarainen, K., Martelius, T., Kaustio, M., Saarela, J., Kuismin, O., Lappi-Blanco, E., Jartti, A., Yannopoulos, F., Tiitto, L., Seppänen, M. R. J., Boisson, B., Casanova, J. L., Varjosalo, M., Hautala, T. & Chen, Z., 2025, In: Journal of clinical immunology. 45, 1, 11 p., 73.

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

Clinical and functional spectrum of RAC2-related immunodeficiency

Donkó, Á., Sharapova, S. O., Kabat, J., Ganesan, S., Hauck, F. H., Bergerson, J. R. E., Marois, L., Abbott, J., Moshous, D., Williams, K. W., Campbell, N., Martin, P. L., Lagresle-Peyrou, C., Trojan, T., Kuzmenko, N. B., Deordieva, E. A., Raykina, E. V., Abers, M. S., Abolhassani, H. & Barlogis, V. & 27 others, Milla, C., Hall, G., Mousallem, T., Church, J., Kapoor, N., Cros, G., Chapdelaine, H., Franco-Jarava, C., Lopez-Lerma, I., Miano, M., Leiding, J. W., Klein, C., Stasia, M. J., Fischer, A., Hsiao, K. C., Martelius, T., Sepännen, M. R. J., Barmettler, S., Walter, J., Masmas, T. N., Mukhina, A. A., Falcone, E. L., Kracker, S., Shcherbina, A., Holland, S. M., Leto, T. L. & Hsu, A. P., 2024, In: Blood. 143, 15, p. 1476–1487 12 p.

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

Hybrid Immunity Improves the Immune Response after the Fourth COVID-19 Vaccine Dose in Individuals with Medical Conditions Predisposing to Severe COVID-19

Ekström, N., Leino, T. M., Juutinen, A., Lehtonen, T., Haveri, A., Liedes, O., Vara, S., Salo, H., Palmu, A. A., Nohynek, H., Martelius, T. & Melin, M., Mar 2024, In: Vaccines. 12, 3, 18 p., 247.

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

NFKB1-geenin variantit altistavat nekrotisoivalle faskiitille

Translated title of the contribution: Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitisNurmi, K., Silventoinen, K., Keskitalo, S., Rajamäki, K., Kouri, V.-P., Kinnunen, M., Jalil, S., Maldonado, R., Wartiovaara, K., Nievas, E. I., Denita-Juárez, S. P., Duncan, C. J. A., Kuismin, O., Saarela, J., Romo, I., Martelius, T., Parantainen, J., Beklen, A., Bilicka, M. & Matikainen, S. & 12 others, Nordström, D. C., Kaustio, M., Wartiovaara-Kautto, U., Kilpivaara, O., Klein, C., Hauck, F., Jahkola, T., Hautala, T., Varjosalo, M., Goncalo, B., Seppänen, M. R. J. & Eklund, K. K., 2024, In: Duodecim. 140, 12, 1 p.

Research output: Contribution to journal › Comment/debate › Professional