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Journal Articles

FOXP3 deep intronic variant underlying IPEX

Pierre Gaufryau, Marie-Claude Stolzenberg, Nathalie Lambert, Philipp Peters, Iben El Missaoui, Najiba Alioua, Sylvain Hanein, Mohamed Hamici, Patrick Nitschké, Peng Zhang, Jacinta Bustamante, Bénédicte Neven, Capucine Picard, Frédéric Rieux-Laucat, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260021.
https://doi.org/10.70962/jhi.20260021
Published: 29 July 2026
View article titled, FOXP3 deep intronic variant underlying IPEX
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Journal Articles

Two novel kindreds with autosomal recessive STAT2 deficiency

Verena Kienapfel, Lotte Cresens, Lucy Bizien, Julia Vasconcelos, Marwa Chbihi, Margarida Guedes, António Marinho, Anneleen Hombrouck, Marjon Wouters, Dylan Laurens, Koji Nakajima, Jean-Laurent Casanova, Jacinta Bustamante, Shen-Ying Zhang, Paul Bastard, Leen Moens, Isabelle Meyts, Giorgia Bucciol
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260037.
https://doi.org/10.70962/jhi.20260037
Published: 30 June 2026
View article titled, Two novel kindreds with autosomal recessive STAT2 deficiency
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Includes: Supplementary data
Journal Articles

STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy

Nima Parvaneh, Rasol Molatefi, Conor Gruber, Sajjad Biglari, Leila Moradi, Yoann Seeleuthner, Fatima Ailal, Ahmed Aziz Bousfiha, Neda Pak, Camille Soudée, Jean-Laurent Casanova, Jérémie Rosain, Dusan Bogunovic, Mohammad Reza Fazlollahi, Mohammad Shahrooei, Jacinta Bustamante
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260001.
https://doi.org/10.70962/jhi.20260001
Published: 27 May 2026
View article titled, STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy
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Includes: Supplementary data
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

Cerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91phox deficiency

Marie Roelens, Anna-Lena Neehus, Jérémie Rosain, Gislène Collobert, Nathalie Boddaert, Liana Carausu, Jacinta Bustamante
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250160.
https://doi.org/10.70962/jhi.20250160
Published: 10 March 2026
View article titled, Cerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91phox deficiency
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Journal Articles

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

Qinhua Zhou, Ivan Bagarić, Fabian Komma, Chandhana Prakash, Hassan Abolhassani, Zahra Chavoshzadeh, Lulu Tsao, Taja Vatovec, Camille Soudée, Jérémie Rosain, Daniel J. Minter, Conny Lu, Nashat Al-Sukaiti, Bingbing Wu, Jinqiao Sun, Qian Zhang, Jean-Laurent Casanova, Qiang Pan-Hammarström, Alice Y. Chan, Tariq Al-Farsi, Xiaochuan Wang, Jacinta Bustamante, Jonathan Bohlen
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250073.
https://doi.org/10.70962/jhi.20250073
Published: 30 January 2026
View article titled, Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease
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Includes: Supplementary data
Journal Articles

Disseminated BCG Infection Revealing Mendelian Susceptibility to Mycobacterial Disease in an Infant with IFNGR1 Deficiency

Abril Montserrat Amaro Leal, Hiromi Onuma Samayoa, Ana María Morales Florez, Lizbeth Blancas Galicia, Jacinta Bustamante
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.92.
https://doi.org/10.70962/LASID2025abstract.92
Published: 22 December 2025
View article titled, Disseminated BCG Infection Revealing Mendelian Susceptibility to Mycobacterial Disease in an Infant with IFNGR1 Deficiency
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

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

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

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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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

A patient with complete IFN-γR1 deficiency and tuberculosis resembling BCG disease

Sara Espinosa-Padilla, Héctor Gómez-Tello, Carlos Sanchez-Flores, Uriel Pérez-Blanco, Tiareth Cova-Guzmán, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Lizbeth Blancas-Galicia
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (2): e20250013.
https://doi.org/10.70962/jhi.20250013
Published: 13 June 2025
View article titled, A patient with complete IFN-γR1 deficiency and tuberculosis resembling BCG disease
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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
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