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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

TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition

Nima Parvaneh, Hossein Karami, Leila Shahbaznejad, Zahra Rezaei, Parastoo Rostami, Mohammad Shahrooei, Vahid Ziaee
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250196.
https://doi.org/10.70962/jhi.20250196
Published: 06 January 2026
View article titled, TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition
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Journal Articles

In Memoriam: Richard A. Gatti, MD (1937–2025)

Alessandro Aiuti, Luigi D. Notarangelo
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250225.
https://doi.org/10.70962/jhi.20250225
Published: 30 December 2025
View article titled, In Memoriam: Richard A. Gatti, MD (1937–2025)
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Journal Articles

Immune dysregulation from a novel CTLA-4 haploinsufficiency variant

Nina N. Brodsky, Alan Kennedy, Daniel Glaser, Lauren Jeffries, Weizhen Ji, Eesha Natarajan, Junghee J. Shin, David M. Sansom, Carrie L. Lucas, Saquib A. Lakhani
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (2): e20250112.
https://doi.org/10.70962/jhi.20250112
Published: 26 December 2025
View article titled, Immune dysregulation from a novel CTLA-4 haploinsufficiency variant
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Journal Articles

Viral infection and brain inflammation with seizures in PARK7 deficiency

Jonas Lønskov, Annika Sünderhauf, Sisse Andersen, Caroline Bækmann Jeppesen, Franziska Winzig, Daniëla Maria Hinke, Johanna L. Heinz, Kenneth Thomsen, Mette B. Thorup, Thomas Zillinger, Bettina Bundgaard, Kerstin De Keukeleere, Sofie Eg Jørgensen, Jakob Ek, Elsebet Østergaard, Jakob Christensen, Mette Møller Handrup, Renee M. van der Sluis, Trine H. Mogensen
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (2): e20250044.
https://doi.org/10.70962/jhi.20250044
Published: 26 December 2025
View article titled, Viral infection and brain inflammation with seizures in PARK7 deficiency
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Includes: Supplementary data
Journal Articles

How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment

Alexandra F. Freeman, Beth K. Thielen, Tamara C. Pozos
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250137.
https://doi.org/10.70962/jhi.20250137
Published: 16 December 2025
View article titled, How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment
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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

ICF syndrome: An epigenetic paradigm for primary immunodeficiencies

Ricardo Martins-Ferreira, Esteban Ballestar
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250165.
https://doi.org/10.70962/jhi.20250165
Published: 05 December 2025
View article titled, ICF syndrome: An epigenetic paradigm for primary immunodeficiencies
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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

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease

Benjamin Fournier, Léa Poirier, Vincent Abramowski, Etienne Merlin, Hélène Deutsch, Paul Bastard, Isabelle Callebaut, Capucine Picard, Jérémie Rosain, Sébastien Küry, Stéphane Bézieau, Monique Fabre, Martin Castelle, Bénédicte Neven, Despina Moshous, Jean-Pierre de Villartay, Frédéric Ebstein
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250096.
https://doi.org/10.70962/jhi.20250096
Published: 18 November 2025
View article titled, Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease
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Includes: Supplementary data
Journal Articles

Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome

Chopie Hassan, Yolanda Ponstein, Robert Hanssen, Kevin S. Thorneloe, Rebecca A. Marsh, V. Koneti Rao
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250125.
https://doi.org/10.70962/jhi.20250125
Published: 17 November 2025
View article titled, Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome
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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

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

Nirmatrelvir/ritonavir use reduces risk for long COVID in patients with immunodeficiency

Karen M. Gilbert, Mostafa Aglan, Aditi Jogdand, Neha V. Khairnar, Henry Ssemaganda, Mei-Sing Ong, Jocelyn R. Farmer
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250107.
https://doi.org/10.70962/jhi.20250107
Published: 04 November 2025
View article titled, Nirmatrelvir/ritonavir use reduces risk for long COVID in patients with immunodeficiency
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Journal Articles

ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH

Lucile Noyer, Priscilla S.-W. Yeung, Sascha Kahlfuss, Catherine Li Lai, Maxwell McDermott, Devisha Patel, Jun Yang, Yin-Hu Wang, Li Zhong, Peter Hsu, Murali Prakriya, Stefan Feske
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250097.
https://doi.org/10.70962/jhi.20250097
Published: 30 October 2025
View article titled, ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH
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Includes: Supplementary data
Journal Articles

The systemic effects of 22q11.2 deletion syndrome on immunity

Nicolai S.C. van Oers, Kathleen E. Sullivan
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250190.
https://doi.org/10.70962/jhi.20250190
Published: 30 October 2025
View article titled, The systemic effects of 22q11.2 deletion syndrome on immunity
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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 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

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

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