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Journal Articles

Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients

Julian Rojas, Carlos A. Arango-Franco, Marcela Moncada-Velez, Diana Marcela Arboleda, Edgar Alfonso Figueredo, Manuela Molina, Juan Pablo Sánchez, Lina Marcela Zapata, Paula Catalina Diaz, Jesús Armando Álvarez, Maria S. Serna-Arbelaez, Lizet Jazmin Pérez Zapata, Gabriel Vélez, Camille Soudée, Juan F. Alzate, Felipe Cabarcas, Catalina Obando Gil, Carlos Garcés, Martha I. Alvarez-Olmos, Paola Marcela Pérez-Camacho, Diego Medina-Valencia, Jaime Alberto Patiño-Niño, Juan Pablo Rendón, María Claudia Ortega-López, Luz Elena Cano, Juan Francisco López, Flor Marcela Estupiñán, Mauricio Chaparro, Laura Niño, Andrés Felipe Escobar, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Anne Puel, Carlos Olmos, Luis Miguel Sosa, Patrick Eliana Sarmiento-Wilches, César Muñoz, Julio Cesar Orrego, Juan Álvaro López, Manuela Olaya-Hernández, Natalia Builes, Estefanía Vásquez-Echeverri, Natalia Vélez-Tirado, José Luis Franco, Lina María Castaño-Jaramillo, Jacinta Bustamante, Andrés Augusto Arias
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250257.
https://doi.org/10.70962/jhi.20250257
Published: 21 May 2026
View article titled, Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients
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Journal Articles

Human Inherited RORγT Deficiency: Genetic Heterogeneity, Immunological Impact, and Clinical Homogeneity

Iris Fagniez, Stuart Tangye, Jean-Laurent Casanova, Cindy Ma, Anne Puel, Jacinta Bustamante, Satoshi Okada, Stephanie Boisson-Dupuis, Rui Yang
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.69.
https://doi.org/10.70962/CIS2026abstract.69
Published: 01 May 2026
View article titled, Human Inherited RORγT Deficiency: Genetic Heterogeneity, Immunological Impact, and Clinical Homogeneity
Journal Articles

Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts

Adrian Gervais, Francesca Trespidi, Alessandro Ferrari, Francesca Rovida, Astrid Marchal, Stefania Croce, Irene Cassaniti, Mattia Moratti, Jennifer L. Uhrlaub, David M. Florian, Karin Stiasny, Elisa Burdino, Micol Angelini, Lucy Bizien, Daniele Lilleri, Veronica Codullo, Tal Freund, Yael Paran, Avi Gadoth, Roni Biran, Alessandro Mancon, Camilla Lucca, Stefania Vogiatzis, Monia Pacenti, Mélodie Aubart, Marco Zecca, Patrizia Comoli, Maria Antonietta Avanzini, Jacques Fellay, Antonio Piralla, Francesca Conti, Alberto Dolci, Luisa Barzon, Valeria Ghisetti, Tiziana Lazzarotto, Danilo Cereda, Alessandro Aiuti, Emmanuelle Jouanguy, Paul Bastard, Margaret R. MacDonald, Charles M. Rice, Anne Puel, Laurent Abel, Giada Rossini, Davide Mileto, Yannick Simonin, Anna Nagy, David Hagin, Kristy O. Murray, Fausto Baldanti, Judith H. Aberle, Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent Casanova, Alessandro Borghesi
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250189.
https://doi.org/10.70962/jhi.20250189
Published: 13 March 2026
View article titled, Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts
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Includes: Supplementary data
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

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
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Includes: Supplementary data
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
Open the PDF for Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee in another window
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