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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

The systemic effects of 22q11.2 deletion syndrome on immunity

Nicolai S.C. van Oers, Kathleen E. Sullivan
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250190.
https://doi.org/10.70962/jhi.20250190
Published: 30 October 2025
View article titled, The systemic effects of 22q11.2 deletion syndrome on immunity
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Journal Articles

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility

Mounavi Vemula, Bergithe E. Oftedal, Dorsa Iraji, Mélanie Migaud, Christopher Richmond, Syndia Lazarus, Jean-Laurent Casanova, Anna Sullivan, Anne Puel, Stuart G. Tangye, Alberto Pinzon-Charry
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250151.
https://doi.org/10.70962/jhi.20250151
Published: 09 October 2025
View article titled, A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility
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Journal Articles

Treatment of severe refractory immune neutropenia with ruxolitinib: Two cases

Richard Schwarzkopf, Andrew A.Y. Chen, Stephanie Quon, Julia Varghese, Janet Roberts, Richard K. Wood, Luke Y.C. Chen
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250131.
https://doi.org/10.70962/jhi.20250131
Published: 08 September 2025
View article titled, Treatment of severe refractory immune neutropenia with ruxolitinib: Two cases
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Journal Articles

A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease

Jeremy Richard Brozyna, Rosemary Moak, Loretta Modica Parker, Thomas Prescott Atkinson
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250124.
https://doi.org/10.70962/jhi.20250124
Published: 22 August 2025
View article titled, A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease
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Journal Articles

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency

Aidé Tamara Staines-Boone, Miyuki Tsumura, STAT1 Consortium, Jacinta Bustamante, Satoshi Okada, Lizbeth Blancas-Galicia
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250015.
https://doi.org/10.70962/jhi.20250015
Published: 29 July 2025
View article titled, Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency
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Includes: Supplementary data
Journal Articles

Serological diagnosis of chronic skin granulomas caused by wild-type or vaccine-derived rubella virus in patients with inherited HLA class I deficiency

Léa Luciani, Ilad Alavi Darazam, Antoine Nougairède, Stéphane Robert, Mana Momenilandi, Jérémie Rosain, Jacinta Bustamante, Caroline Deswarte, Henri Adamski, Catherine Picard-Dahan, Nahal Mansouri, Géraldine Piorkowski, Audrey Cortes, Camille Placidi, Vincent Descamps, Felipe Suarez, Jean-Laurent Casanova, Davood Mansouri, Xavier de Lamballerie, Vivien Béziat
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250103.
https://doi.org/10.70962/jhi.20250103
Published: 23 July 2025
View article titled, Serological diagnosis of chronic skin granulomas caused by wild-type or vaccine-derived rubella virus in patients with inherited HLA class I deficiency
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