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Journal Articles

IgA defects in CVID lead to bacterial translocation, increased serum γ-interferon, and BAFF

Hsi-en Ho, Lin Radigan, Eric Meffre, Charlotte Cunningham-Rundles
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250080.
https://doi.org/10.70962/jhi.20250080
Published: 13 January 2026
View article titled, IgA defects in CVID lead to bacterial translocation, increased serum γ-interferon, and BAFF
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Journal Articles

Novel TLR7 gain-of-function variant and review of the associated disease spectrum

Maud Tusseau, Claire Desvignes, Guilaine Boursier, Clémentine Fort, Clémence David, Marie-Louise Frémond, Sarah Benezech, Samira Khaldi-Plassart, Antonin Chenel, Jade Cognard, Liliane Khoryati, Jonathan Sormani, Frédérique Dijoud, David Goncalves, Anais Nombel, Maurine Jouret, Anne-Laure Mathieu, Alexandre Belot
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250199.
https://doi.org/10.70962/jhi.20250199
Published: 12 January 2026
View article titled, Novel TLR7 gain-of-function variant and review of the associated disease spectrum
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Journal Articles

Shared TCR Vβ21.3+ T cell immunological signature between MIS-A and MIS-C

Liliane Khoryati, Signe Bech Sørensen, Christophe Parizot, Raphaëlle Lautraite, Marc Pineton de Chambrun, MIS-A & COVID-19 Taskforce, Guy Gorochov, Trine H. Mogensen, Alexandre Belot
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250050.
https://doi.org/10.70962/jhi.20250050
Published: 08 January 2026
View article titled, Shared TCR Vβ21.3+ T cell immunological signature between MIS-A and MIS-C
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Includes: Supplementary data
Journal Articles

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

Chen Wang, Meera Patel, Amanda Urban, Celeste G. Nelson, Thomas DiMaggio, Theo Heller, Edward W. Cowen, Heidi H. Kong, Heather A. Kenney, Enrico Santangeli, Yanhan Wang, Crhistian Toribio-Dionicio, Nicole Akar-Ghibril, Mehdi Adeli, Corina E. Gonzalez, Steven M. Holland, Luigi D. Notarangelo, Joshua D. Milner, Jonathan J. Lyons, Alexandra F. Freeman
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (2): e20250176.
https://doi.org/10.70962/jhi.20250176
Published: 12 December 2025
View article titled, Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency
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Journal Articles

Automated data extraction model for the USIDNET registry: Bigger, faster, and better data collection

Vaibhavi Vichare, Gonench Kilich, Charlotte Cunningham-Rundles, Michelle Onyekaba, Roshini S. Abraham, Jennifer Puck, Ramsay Fuleihan, Rebecca A. Marsh, Kathleen E. Sullivan
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250118.
https://doi.org/10.70962/jhi.20250118
Published: 19 November 2025
View article titled, Automated data extraction model for the USIDNET registry: Bigger, faster, and better data collection
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Journal Articles

A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations

G. Michelle Ducasa, Rebecca A. Marsh, Ali Mojebi, Hsi-en Ho, Charlotte Cunningham-Rundles, Lisa Forbes Satter, Elena W.Y. Hsieh, Sinisa Savic, Marta Dafne Cabañero-Navalón, Hector Balastegui-Martin, Joud Hajjar, Gulbu Uzel, Kevin S. Thorneloe, Jocelyn R. Farmer
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250157.
https://doi.org/10.70962/jhi.20250157
Published: 24 October 2025
View article titled, A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations
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Includes: Supplementary data
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

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

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

Cartilage-hair hypoplasia: A comprehensive review

Svetlana Vakkilainen
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250142.
https://doi.org/10.70962/jhi.20250142
Published: 01 October 2025
View article titled, Cartilage-hair hypoplasia: A comprehensive review
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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

A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease

Jeremy Richard Brozyna, Rosemary Moak, Loretta Modica Parker, Thomas Prescott Atkinson
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250124.
https://doi.org/10.70962/jhi.20250124
Published: 22 August 2025
View article titled, A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease
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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

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

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

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity

Erica G. Schmitt, Nermina Saucier, Samuel I. Risma, Sena N. Arbag, Ana Kolicheski, Alexander J. Paul, Tomi L. Toler, Katarina Semkiu, Soe S. Mar, Joshua D. Milner, Jeffrey J. Bednarski, Megan A. Cooper
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250060.
https://doi.org/10.70962/jhi.20250060
Published: 08 July 2025
View article titled, Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity
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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

Inborn errors of immunity affecting the MHC class I pathway for antigen presentation

Stephan D. Gadola, Ömür Ardeniz, Angelica Cuapio, Jacques Zimmer, Hans-Gustaf Ljunggren
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (2): e20250029.
https://doi.org/10.70962/jhi.20250029
Published: 11 June 2025
View article titled, Inborn errors of immunity affecting the MHC class I pathway for antigen presentation
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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