Division of Rheumatology

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  • A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice

    Toth, K. A., Schmitt, E. G., Kolicheski, A., Greenberg, Z. J., Levendosky, E., Saucier, N., Trammel, K., Oikonomou, V., Lionakis, M. S., Klechevsky, E., Kim, B. S., Schuettpelz, L. G., Saligrama, N. & Cooper, M. A., Aug 5 2024, In: Journal of Experimental Medicine. 221, 8, e20232091.

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

    2 Scopus citations

  • Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome Medicine, (2023), 15, 1, (22), 10.1186/s13073-023-01173-8)

    French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, COVID Human Genetic Effort, COVID Human Genetic Effort, COVIDeF Study Group, Matuozzo, D., Talouarn, E., Marchal, A., Zhang, P., Manry, J., Seeleuthner, Y., Zhang, Y., Bolze, A., Chaldebas, M. & Milisavljevic, B. & 190 others, Gervais, A., Bastard, P., Asano, T., Bizien, L., Barzaghi, F., Abolhassani, H., Tayoun, A. A., Aiuti, A., Darazam, I. A., Allende, L. M., Alonso-Arias, R., Arias, A. A., Aytekin, G., Bergman, P., Bondesan, S., Bryceson, Y. T., Bustos, I. G., Cabrera-Marante, O., Carcel, S., Carrera, P., Casari, G., Chaïbi, K., Colobran, R., Condino-Neto, A., Covill, L. E., Delmonte, O. M., Zein, L. E., Flores, C., Gregersen, P. K., Gut, M., Haerynck, F., Halwani, R., Hancerli, S., Hammarström, L., Hatipoğlu, N., Karbuz, A., Keles, S., Kyheng, C., Leon-Lopez, R., Franco, J. L., Mansouri, D., Martinez-Picado, J., Akcan, O. M., Migeotte, I., Morange, P. E., Morelle, G., Martin-Nalda, A., Novelli, G., Novelli, A., Ozcelik, T., Palabiyik, F., Pan-Hammarström, Q., de Diego, R. P., Planas-Serra, L., Pleguezuelo, D. E., Prando, C., Pujol, A., Reyes, L. F., Rivière, J. G., Rodriguez-Gallego, C., Rojas, J., Rovere-Querini, P., Schlüter, A., Shahrooei, M., Sobh, A., Soler-Palacin, P., Tandjaoui-Lambiotte, Y., Tipu, I., Tresoldi, C., Troya, J., van de Beek, D., Zatz, M., Zawadzki, P., Al-Muhsen, S. Z., Alosaimi, M. F., Alsohime, F. M., Baris-Feldman, H., Butte, M. J., Constantinescu, S. N., Cooper, M. A., Dalgard, C. L., Fellay, J., Heath, J. R., Lau, Y. L., Lifton, R. P., Maniatis, T., Mogensen, T. H., von Bernuth, H., Lermine, A., Vidaud, M., Boland, A., Deleuze, J. F., Nussbaum, R., Kahn-Kirby, A., Mentre, F., Tubiana, S., Gorochov, G., Tubach, F., Hausfater, P., Meyts, I., Zhang, S. Y., Puel, A., Notarangelo, L. D., Boisson-Dupuis, S., Su, H. C., Boisson, B., Jouanguy, E., Casanova, J. L., Zhang, Q., Abel, L., Cobat, A., Al-Muhsen, S., Al-Mulla, F., Anderson, M. S., Andreakos, E., Arias, A. A., Feldman, H. B., Belot, A., Biggs, C. M., Bogunovic, D., Bondarenko, A., Bousfiha, A. A., Brodin, P., Bryceson, Y., Bustamante, C. D., Chakravorty, S., Christodoulou, J., Desai, M., Drolet, B. A., Baghdadi, J. E., Espinosa-Padilla, S., Franco, J. L., Froidure, A., Hagin, D., Henrickson, S. E., Hsieh, E. W. Y., Husebye, E., Imai, K., Itan, Y., Jarvis, E. D., Karamitros, T., Kisand, K., Ku, C. L., Ling, Y., Lucas, C. L., Maródi, L., Milner, J. D., Mironska, K., Morio, T., Ng, L. F. P., O’Farrelly, C., Okada, S., Planas, A. M., Quintana-Murci, L., Renia, L., Resnick, I., Rodríguez-Gallego, C., Sancho-Shimizu, V., Sediva, A., Seppänen, M. R. J., Shcherbina, A., Slaby, O., Snow, A. L., Soler-Palacín, P., Spaan, A. N., Tancevski, I., Tangye, S. G., Ramaswamy, S., Turvey, S. E., Uddin, F., Uddin, M. J., Vinh, D. C., Bureau, S., Vacher, Y., Gysembergh-Houal, A., Demerville, L., Chachoua, A., Abad, S., Abassi, R., Abdellaoui, A., Abdelmalek, A., Abdoul, H., Abergel, H., Abeud, F., Abgrall, S., Abisror, N., Adechian, M., Aderdour, N., Admane, H. F. & Adnet, F., Dec 2024, In: Genome medicine. 16, 1, 6.

    Research output: Contribution to journal › Comment/debate

    Open Access

  • Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome

    Delafontaine, S., Iannuzzo, A., Bigley, T. M., Mylemans, B., Rana, R., Baatsen, P., Poli, M. C., Rymen, D., Jansen, K., Mekahli, D., Casteels, I., Cassiman, C., Demaerel, P., Lepelley, A., Frémond, M. L., Schrijvers, R., Bossuyt, X., Vints, K., Huybrechts, W. & Tacine, R. & 14 others, Willekens, K., Corveleyn, A., Boeckx, B., Baggio, M., Ehlers, L., Munck, S., Lambrechts, D., Voet, A., Moens, L., Bucciol, G., Cooper, M. A., Davis, C. M., Delon, J. & Meyts, I., Feb 15 2024, In: Journal of Clinical Investigation. 134, 4, e163604.

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

    Open Access
    4 Scopus citations
View all 333 Research outputs