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Journal Articles

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants

Nidia Moreno-Corona, Alice Valagussa, Lucie Poggi, Orestes Lopez-Ortega, Cécile Masson, Mohammed Zarhrate, Alexis Bertrand, Capucine Picard, Patrick Revy, Damien Bodet, Jérémie Rouger, Martin Castelle, Alain Fischer, Marie-Françoise O'Donohue, Sven Kracker
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250061.
https://doi.org/10.70962/jhi.20250061
Published: 06 May 2026
View article titled, Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants
Open the PDF for Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants in another window
Includes: Supplementary data
Journal Articles

IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes

Mattison P. Stojcic, Makenzie A. Manning, Miguel Galicchio, Manfred Hönig, Despina Moshous, Sven Kracker, Felipe Suarez, Ruben Martinez-Barricarte, Aidé Tamara Staines-Boone, Yuridia Salazar Gálvez, Vignesh Pandiarajan, Sergio D. Rosenzweig, Klaus Schwarz, Catherine M. Biggs, Jacob Rozmus, Stuart E. Turvey
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.220.
https://doi.org/10.70962/CIS2026abstract.220
Published: 01 May 2026
View article titled, IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes
Journal Articles

A heterozygous USB1 variant linked to immunodeficiency

Alice Valagussa, Nidia Moreno-Corona, Chantal Lagresle-Peyrou, Sara Mercurio, Margot Tragin, Nicolas Goudin, Mélanie Parisot, Monica Beltrame, Despina Moshous, Sven Kracker
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250110.
https://doi.org/10.70962/jhi.20250110
Published: 22 October 2025
View article titled, A heterozygous USB1 variant linked to immunodeficiency
Open the PDF for A heterozygous USB1 variant linked to immunodeficiency in another window
Includes: Supplementary data
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