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A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis

Rao, V. K., Šedivá, A., Dalm, V. A. S. H., Plebani, A., Schuetz, C., Shcherbina, A. & Trizzino, A. & 12 others, Zharankova, Y., Orpia, A., Kulm, E., Webster, S., Körholz, J., Lougaris, V., Rodina, Y., Conlon, N., Coulter, T., Bradt, J., Relan, A. & Uzel, G., Jan 2025, In: Clinical Immunology. 270, 110400.

Research output: Contribution to journal › Research article › Contributed › peer-review

Bridging the Gap: Registry and Population-Based Perspectives on SOCS1 Insufficiency

Körholz, J. C., Jéròme, H., Anna Franziska, W., Borisov, O. V., Hazard, D., Leahy, T. & Ronan, J. & 45 others, Marie d Belot, A., Bakhtiar, S., Hauck, F., Lee, P. V., Palmeri, S., Barlogis, S., Aladjidi, V., Ebetsberger-Dachs, N., Abisror, G., Avouac, N., Charbit-Henrion, J., Cheminant, F., Chinn, M., Chong, I., Donadieu, J., Gosh, J., and Haerynck, S., Bosteels, F., van Konijnenburg, C. H., Izadi, D., Jachiet, N., Jouan, V., Ku, C.-L. L., Wei-Te, M., Michniaki, T., Neves, J., Kogan, N., Oommen, S., Prasad Picard, C., Bustamante, J., Rosain, J., Forbes Satter, L., Schuetz, C., Selmeryd, I., Sogkas, G., Voloshchuk, V., Gastro, C., Melbert, F., Uhlmann, A., Goldacker, S., Grimbacher, B., Krausz, M., Warnatz, K., Ehl, S. R. & Bénédicte-Rieux-Laucat, F., 2025, In: The Lancet : Rheumatology.

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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)

COVID Human Genetic Effort, Dec 2024, Genome medicine, 16, 1.

Research output: Contribution to specialist publication › Corrections (errata and retractions) › peer-review

Leniolisib treatment for people with activated PI3K delta syndrome (APDS): a plain language summary of the phase 3 study

Kulm, E., Webster, S., Šedivá, A., Plebani, A., Schuetz, C., Conlon, N. & Dalm, V. A. S. H. & 4 others, Körholz, J., Lougaris, V., Luscombe, J. & Bradt, J., 16 Sept 2024, In: Future Rare Diseases. 4, 1, 2379239.

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Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

Eigemann, J., Janda, A., Schuetz, C., Lee-Kirsch, M. A., Schulz, A., Hoenig, M. & Furlan, I. & 14 others, Jacobsen, E. M., Zinngrebe, J., Peters, S., Drewes, C., Siebert, R., Rump, E. M., Führer, M., Lorenz, M., Pannicke, U., Kölsch, U., Debatin, K. M., von Bernuth, H., Schwarz, K. & Felgentreff, K., 12 Sept 2024, In: Journal of clinical immunology. 45, 1, 1.

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