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Journal Articles

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening

Kristine Jeganathan, Adam Byrne, Gabrielle White, Eyal Grunebaum, Elie Haddad, Michael S. Hershfield, Teresa K. Tarrant, Matthew P.A. Henderson, Anne Pham-Huy
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250102.
https://doi.org/10.70962/jhi.20250102
Published: 10 November 2025
View article titled, Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening
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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

A heterozygous USB1 variant linked to immunodeficiency

Alice Valagussa, Nidia Moreno-Corona, Chantal Lagresle-Peyrou, Sara Mercurio, Margot Tragin, Nicolas Goudin, Mélanie Parisot, Monica Beltrame, Despina Moshous, Sven Kracker
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250110.
https://doi.org/10.70962/jhi.20250110
Published: 22 October 2025
View article titled, A heterozygous USB1 variant linked to immunodeficiency
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Includes: Supplementary data
Journal Articles

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients

Tiago Santos de Oliveira, Ranieri Coelho Salgado, Lillian Nunes Gomes, Carolina Sanchez Aranda, Janáira Fernandes Severo Ferreira, Ekaterini Simões Goudouris, Fernanda Pinto Mariz, Maria Luiza Oliva Alonso, Solange Oliveira Rodrigues Valle, Luiz Fernando Bacarini Leite, Ana Carolina da Matta Ain, Pérsio Roxo-Junior, Marília Montanaro, Flávia Alice Timburibá de Medeiros Guimarães, Simone de Castro Resende Franco, Herberto José Chong-Neto, Nelson Augusto Rosario Filho, Daniélli Christinni Bichuetti-Silva, Vera Maria Dantas, Jackeline Motta Franco, Viviane Guimaro Mendes Barreto Resende, Simone Soares Lima, Dorcas Lamounier Costa, Mayra De Barros Dorna, Antônio Carlos Pastorino, Beni Morgenstern, Vera Esteves Vagnozzi Rullo, Constantino Giovanni Braga Cartaxo, Naiade R. de Sá, Irma Cecília Douglas Paes Barreto, Nancy Viegas Chen Lobo, Flavia Amendola Anisio de Carvalho, Monica Soares de Souza, Gesmar Rodrigues Silva Segundo, Dewton de Moraes Vasconcelos, Juliana Folloni Fernandes, Gislene Santana Tusani, Carolina Cardoso de Mello Prando, Ana Paula Zaninelli Diniz Iwamura, Arturo López-Larios, Ana Jocelyn Carmona Vargas, Ana Paola Macías-Robles, Maria Edith Gonzalez Serrano, Sara Elva Espinosa-Padilla, Ana Karen Peñafiel Vicuña, Aidé Tamara Staines-Boone, Omar J. Saucedo-Ramírez, Miguel García Domínguez, Maria R. Canseco-Raymundo, Federico Saracho-Weber, Oscar Zavaleta Martínez, Susana García-Pavón-Osorio, Rogelio Guzmán Cotaya, Francisco J. Espinosa-Rosales, Roselia Ramírez-Rivera, María de la Luz H. García-Cruz, Carmen Zarate-Hernández, Lizbeth Blancas-Galicia, Alejandra King, Oscar Porras, Lorena Regairaz, Alejandra Lampugnani, Celia Martínez de Cuellar, Juan Carlos Aldave Becerra, Liz Eliana Veramendi Espinoza, Cecilia Montenegro, Magdalena Schelotto, Virginia Patiño, Mariane Cunha de Oliveira, Antonio Condino-Neto
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250033.
https://doi.org/10.70962/jhi.20250033
Published: 06 October 2025
View article titled, Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients
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Includes: Supplementary data
Journal Articles

Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model

Farida Almarzooqi, Ahmed Aziz Bousfiha
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250094.
https://doi.org/10.70962/jhi.20250094
Published: 29 September 2025
View article titled, Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model
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Journal Articles

MAGIS syndrome: Phenotypes, pathogenesis, and treatment

Ian T. Lamborn, Huie Jing, Eesha Chattopadhyay, Hyoungjun Ham, Yu Zhang, Helen C. Su
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250065.
https://doi.org/10.70962/jhi.20250065
Published: 14 August 2025
View article titled, MAGIS syndrome: Phenotypes, pathogenesis, and treatment
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Journal Articles

Ethical and equitable considerations when establishing a diagnosis of an inborn error of immunity

Timothy M. Buckey, Jennifer R. Heimall
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250068.
https://doi.org/10.70962/jhi.20250068
Published: 07 August 2025
View article titled, Ethical and equitable considerations when establishing a diagnosis of an inborn error of immunity
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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

Description of invasive aspergillosis in Mexican patients with chronic granulomatous disease

Tiareth Cova-Guzmán, Deborah Palacios Reyes, Carla M. Román-Montes, Marco Antonio Yamazaki-Nakashimada, Aidé Tamara Staines Boone, Luis Silva-Goytia, María de la Luz García-Cruz, Héctor Gómez-Tello, Uriel Pérez-Blanco, Nancy Jiménez-Polvo, Estefany Mamani Velasquez, Nideshda Ramírez Uribe, Isabel Medina Vera, Sara Espinosa Padilla, Lizbeth Blancas-Galicia
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250010.
https://doi.org/10.70962/jhi.20250010
Published: 18 July 2025
View article titled, Description of invasive aspergillosis in Mexican patients with chronic granulomatous disease
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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

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening

Yusuke Imanaka, Takaki Asano, Kosuke Noma, Fumiaki Sakura, Norifumi Nishioka, Yoko Mizoguchi, Takahiro Kamiya, Hirokazu Kanegane, Satoshi Okada
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250057.
https://doi.org/10.70962/jhi.20250057
Published: 14 July 2025
View article titled, X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening
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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

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