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Anne Puel
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Journal Articles

Severe Opportunistic Infections Without a Monogenic Defect: Clues to a Phenocopy?

Helena Ashton Prolla, Laura Boueri Ticle Lima, Martina Schroeder Wissmann, Mayara Jorgens Prado, Leonardo Navarrina, Nathan Araujo Cadore, Renan Cesar Sbruzzi, Laurinda Medeiros Ramalho, Paul Bastard, Anne Puel, Jacinta Bustamante, Jean-Laurent Casanova, Osvaldo Artigalás, Fernanda Sales Luiz Vianna
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.85.
https://doi.org/10.70962/LASID2025abstract.85
Published: 22 December 2025
View article titled, Severe Opportunistic Infections Without a Monogenic Defect: Clues to a Phenocopy?
Journal Articles

Human inborn errors of the alternative NF-κB pathway

Tom Le Voyer, Jean-Laurent Casanova, Anne Puel
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250104.
https://doi.org/10.70962/jhi.20250104
Published: 21 November 2025
View article titled, Human inborn errors of the alternative NF-κB pathway
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Includes: Supplementary data
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 Autosomal Recessive Interleukin-7 Deficiency with NT-I7 (Efineptakin Alfa), Long-Acting Recombinant Human Interleukin-7: An Expanded Access Protocol

Derek MacMath, Peiying Ye, Amay Shah, Jasmine Mensah, Triscia Martin, Megan Anderson, Andres Zea Vera, Alex Oh, Sara Ferrando Martinez, Klaus Warnatz, Luigi Notarangelo, Jean-Laurent Casanova, Jose Luis Franco, Anne Puel, Ken Natsuga, Andrea Lisco
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.117.
https://doi.org/10.70962/CIS2025abstract.117
Published: 25 April 2025
View article titled, Treatment of Autosomal Recessive Interleukin-7 Deficiency with NT-I7 (Efineptakin Alfa), Long-Acting Recombinant Human Interleukin-7: An Expanded Access Protocol
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