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Journal Articles

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease

Benjamin Fournier, Léa Poirier, Vincent Abramowski, Etienne Merlin, Hélène Deutsch, Paul Bastard, Isabelle Callebaut, Capucine Picard, Jérémie Rosain, Sébastien Küry, Stéphane Bézieau, Monique Fabre, Martin Castelle, Bénédicte Neven, Despina Moshous, Jean-Pierre de Villartay, Frédéric Ebstein
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250096.
https://doi.org/10.70962/jhi.20250096
Published: 18 November 2025
View article titled, Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease
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Includes: Supplementary data
Journal Articles

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity

Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard, Mathieu Fusaro, Marie Jaffray, Bernardita Medel, Lydia Khellaf, Yoann Seeleuthner, Mélodie Perin, Corinne Jacques, Marlène Pasquet, Laura Olivier, Fernando Sepulveda, Tom Le Voyer, Aurélie Cobat, Patrick Nitschké, Lionel Galicier, Nicolas Schleinitz, Eric Oksenhendler, Marion Malphettes, Bénédicte Neven, Despina Moshous, Felipe Suarez, Claire Fieschi, Jean-Laurent Casanova, Geneviève de Saint Basile, Guillaume Dorval, Capucine Picard, Jacinta Bustamante, Peng Zhang, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250041.
https://doi.org/10.70962/jhi.20250041
Published: 17 July 2025
View article titled, Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity
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Includes: Supplementary data
Journal Articles

EBV Susceptibility Associated with RECQL4 Deficiency

Benoît Heid-Picard, Alexandre Degachi, Sarah Winter, Agathe Escudier, Vincent Barlogis, Sujal Ghosh, Isabelle Pellier, Alain Fischer, Frédéric Vely, Benjamin Fournier, Capucine Picard, David Boutboul, Christelle Lenoir, Sylvain Latour
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.93.
https://doi.org/10.70962/CIS2025abstract.93
Published: 25 April 2025
View article titled, EBV Susceptibility Associated with RECQL4 Deficiency
Journal Articles

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

M. Cecilia Poli, Ivona Aksentijevich, Ahmed Aziz Bousfiha, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts, Stuart G. Tangye
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (1): e20250003.
https://doi.org/10.70962/jhi.20250003
Published: 15 April 2025
View article titled, Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
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Journal Articles

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

Ahmed Aziz Bousfiha, Leïla Jeddane, Abderrahmane Moundir, M. Cecilia Poli, Ivona Aksentijevich, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Stuart G. Tangye, Isabelle Meyts
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (1): e20250002.
https://doi.org/10.70962/jhi.20250002
Published: 15 April 2025
View article titled, The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
Open the PDF for The 2024 update of IUIS phenotypic classification of human inborn errors of immunity in another window
Includes: Supplementary data