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Jean-Laurent Casanova
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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

Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India

Aparna Dalvi, Lavina Temkar, Mukesh Desai, Swati Garg, Jahnavi Aluri, Gouri Hule, Umair Ahmed Bargir, Priyanka Setia, Priyanka Kambli, Amruta Dhawale, Parag Tamhankar, Reetika Malik Yadav, Sagar Bhattad, Meena Sivasankaran, Harsha Prasad Lashkari, Asruti Kacha, T. Kasi Bharathi, Swati Kanakia, Kamana Arun Gandhi, Shraddha Shelar, Shweta Shinde, Neha Jodhawat, Ramesh Kawale, Nitin Salve, Jean-Laurent Casanova, Jacinta Bustamante, Manisha R. Madkaikar
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250153.
https://doi.org/10.70962/jhi.20250153
Published: 18 December 2025
View article titled, Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India
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Includes: Supplementary data
Journal Articles

Recurrent severe viral infection in a child with inherited complete TBK1 deficiency

Sara Sebnem Kilic, Shuxiang Zhao, Zhiyong Liu, Yasin Karali, Koray Yalcin, Aaron Bodansky, Debanjana Chakravarty, Michael Wilson, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250058.
https://doi.org/10.70962/jhi.20250058
Published: 03 December 2025
View article titled, Recurrent severe viral infection in a child with inherited complete TBK1 deficiency
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Includes: Supplementary data
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

Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic

Marie Materna, Christian Beetz, Christian A. Ganoza, Caroline Deswarte, Lucien Pereira Estrela, Nima Parvaneh, Jean-Laurent Casanova, Vivien Béziat
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250155.
https://doi.org/10.70962/jhi.20250155
Published: 19 November 2025
View article titled, Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic
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Includes: Supplementary data
Journal Articles

IRF4 haploinsufficiency in a multiplex family with Whipple’s disease

Sinem Ünal, Stéphanie Dublanc, Hailun Li, Jean-Philippe Vernhes, Vincent Meynier, Camille Soudée, Whipple’s consortium, Vivien Béziat, Guillaume Vogt, Xavier Puéchal, Jean-Laurent Casanova, Jacinta Bustamante, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250009.
https://doi.org/10.70962/jhi.20250009
Published: 11 November 2025
View article titled, IRF4 haploinsufficiency in a multiplex family with Whipple’s disease
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Includes: Supplementary data
Journal Articles

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

Pauline Ober, Christelle Lenoir, Arnaud Maillard, Marie-Gabrielle Vigue, Marjolaine Willems, Sandrine Baron-Joly, Carole E. Aubert, Eva Maria Tinner, Nathalie Lambert, Iben El Missaoui, Frédéric Parisot, Antoine Fayand, Yoann Seeleuthner, Sylvain Hanein, Tom Le Voyer, Martin Broly, Guilaine Boursier, Jean-Laurent Casanova, Peng Zhang, Jana Pachlopnik Schmid, Sylvain Latour, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250181.
https://doi.org/10.70962/jhi.20250181
Published: 30 October 2025
View article titled, A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
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Journal Articles

The seven enigmas of SARS-CoV-2: From the past to the future

Evangelos Andreakos, Lisa Arkin, Paul Bastard, Alexandre Bolze, Alessandro Borghesi, Petter Brodin, Jean-Laurent Casanova, Giorgio Casari, Aurélie Cobat, Beth Drolet, Jacques Fellay, Elena W.Y. Hsieh, Isabelle Meyts, Trine H. Mogensen, Vanessa Sancho-Shimizu, András N. Spaan, Helen C. Su, Donald C. Vinh, Ahmad Yatim, Qian Zhang, Shen-Ying Zhang, COVID Human Genetic Effort
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250149.
https://doi.org/10.70962/jhi.20250149
Published: 24 October 2025
View article titled, The seven enigmas of SARS-CoV-2: From the past to the future
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Includes: Supplementary data
Journal Articles

Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases

Adrian Gervais, Alessandro Borghesi, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250090.
https://doi.org/10.70962/jhi.20250090
Published: 23 October 2025
View article titled, Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases
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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

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency

Tristan J. van der Linden, Rob J.W. Arts, Catherine M. Biggs, Laleh Habibi, Laura Batlle-Masó, Arjan van Laarhoven, Lisette M. Scheepmaker, Pariya Yousefi, Andrea C. Gómez-Raccio, Zahra Alizadeh, Catharina M. Mulders-Manders, Jaap ten Oever, Janneke Schuurs-Hoeijmakers, Nasrin Alipour-Olyei, Anne Molitor, Daniela Di Giovanni, Raphael Carapito, Seiamak Bahram, Gisela Seminario, Liliana Bezrodnik, Mana Momenilandi, Mohammad Shahrooei, Jacinta Bustamante, Ivona Aksentijevich, Daniel L. Kastner, Mohammad Reza Fazlollahi, Roger Colobran, Stuart E. Turvey, Frank L. van de Veerdonk, Jean-Laurent Casanova, Bertrand Boisson, Bart W. Bardoel, András N. Spaan
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250018.
https://doi.org/10.70962/jhi.20250018
Published: 30 September 2025
View article titled, Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency
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Includes: Supplementary data
Journal Articles

Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis

Dalia Abd Elaziz, Alperen Baran, Aysima Atilgan Lulecioglu, Adrian Gervais, Chenglin Zhang, Vivien Béziat, Xiao-Fei Kong, Hanaa El-Karaksy, Jean-Laurent Casanova, Serkan Belkaya, Emmanuelle Jouanguy
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250135.
https://doi.org/10.70962/jhi.20250135
Published: 26 September 2025
View article titled, Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis
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Includes: Supplementary data
Journal Articles

Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency

Hassan Abolhassani, Andrés Caballero-Oteyza, Mingyu Yang, Michele Proietti, Samaneh Delavari, Patrick Maffucci, Alejandro A. Schäffer, Bertrand Boisson, Jean-Laurent Casanova, Nima Rezaei, Qiang Pan-Hammarström, Charlotte Cunningham-Rundles, Lennart Hammarström, Bodo Grimbacher
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250016.
https://doi.org/10.70962/jhi.20250016
Published: 19 August 2025
View article titled, Re-evaluation of the contribution of TNFRSF13B variants to antibody 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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Journal Articles

Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients

Gerhard Kindle, Mickaël Alligon, Michael H. Albert, Matthew Buckland, J. David Edgar, Benjamin Gathmann, Sujal Ghosh, Antonios Gkantaras, Alexandra Nieters, Claudio Pignata, Peter N. Robinson, Stephan Rusch, Catharina Schuetz, Svetlana Sharapova, Benjamin Shillitoe, Fabio Candotti, Andrew J. Cant, Jean-Laurent Casanova, Amos Etzioni, Alain Fischer, Isabelle Meyts, Luigi D. Notarangelo, Martine Pergent, C.I. Edvard Smith, ESID Registry Working Party, Lennart Hammarström, Bodo Grimbacher, Mikko R.J. Seppänen, Nizar Mahlaoui, Stephan Ehl, Markus G. Seidel
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250007.
https://doi.org/10.70962/jhi.20250007
Published: 17 July 2025
View article titled, Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
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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

Prevalence and association of type I IFN autoantibodies with clinical outcomes in critically ill Brazilian COVID-19 patients

Graziela P. Peduti, Isadora M. Paiva, Adrian Gervais, Lorena V. Andrade, Beatriz Vaconcelos, Pablo R.S. Oliveira, Luydson R. Vasconcelos, Ricardo Khouri, Thiago M. Cunha, Carlos D.F. Souza, Anderson C. Armstrong, Jean-Laurent Casanova, Rodrigo F. Carmo
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250031.
https://doi.org/10.70962/jhi.20250031
Published: 08 July 2025
View article titled, Prevalence and association of type I IFN autoantibodies with clinical outcomes in critically ill Brazilian COVID-19 patients
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Includes: Supplementary data
Journal Articles

Two different forms of inherited human TCRα chain deficiency

Marie Materna, Simin Seyedpour, Tom Le Voyer, Nima Parvaneh, Niloufar Yazdanpanah, Amir Ali Hamidieh, Mehrzad Mehdizadeh, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Krishnajina Amarajeeva, Mana Momenilandi, Jean-Laurent Casanova, Mohammad Shahrooei, Jacinta Bustamante, Nima Rezaei, Vivien Béziat
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (2): e20250014.
https://doi.org/10.70962/jhi.20250014
Published: 04 June 2025
View article titled, Two different forms of inherited human TCRα chain deficiency
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Includes: Supplementary data
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 immunity

Jean-Laurent Casanova
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (1): e20250001.
https://doi.org/10.70962/jhi.20250001
Published: 26 February 2025
View article titled, Human immunity
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