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Journal Articles

ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype

Philipp Peters, Johanna Schepp, Michael H. Albert, Horst von Bernuth, Norbert Blank, Jürgen Brunner, Gregor Dückers, Lisa Ehlers, Susan Farmand, Dirk Föll, Elisabeth Förster-Waldl, Janina Gburek-Augustat, Sujal Ghosh, Lisa Göschl, Marc Hömberg, Manfred Hönig, Tilmann Kallinich, Christian Klemann, Leah Klingel, Udo Kontny, Lisa-Maria Kuhn, Peter Lamprecht, Kai Lehmberg, Almut Meyer-Bahlburg, Ingo Müller, Michaela Nathrath, Tim Niehues, Prasad T. Oommen, Jana Pachlopnik Schmid, Seraina Prader, Alexander Puzik, Raffaele Renella, Ansgar Schulz, Andrea Skrabl-Baumgartner, Sven Starke, Teresa K. Tarrant, Michael Hershfield, Bodo Grimbacher, Fabian Hauck
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250108.
https://doi.org/10.70962/jhi.20250108
Published: 16 June 2026
View article titled, ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype
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Includes: Supplementary data
Journal Articles

Large vessel vasculopathy: An underrecognized complication in Wiskott–Aldrich syndrome

Deepti Suri, Pallavi L. Nadig, Dev Desai, Yamini Sharma, Ahmed Jamal, Gayathri C. Vaitheeswaran, Himanshi Choudhary, Murugan Sudhakar, Ridhima Aggarwal, Suprit Basu, Pratibha Suku, Vibhu Joshi, Rashmi Rikhi, Anmol Bhatia, Akshay Saxena, Manphool Singhal, Manpreet Dhaliwal, Saniya Sharma, Rakesh Kumar Pilania, Ankur Kumar Jindal, Vignesh Pandiarajan, Amit Rawat, Anju Gupta, Surjit Singh
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250242.
https://doi.org/10.70962/jhi.20250242
Published: 26 May 2026
View article titled, Large vessel vasculopathy: An underrecognized complication in Wiskott–Aldrich syndrome
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Journal Articles

C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients

Azzeddine Tahiat, Reda Belbouab, Abdelghani Yagoubi, Sofija Buta Panov, Lorenzo Cuollo, Kamel Djenouhat, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260042.
https://doi.org/10.70962/jhi.20260042
Published: 26 May 2026
View article titled, C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients
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Includes: Supplementary data
Journal Articles

Adult-onset STING-associated vasculopathy

Thomas R. Riley, IV, Jonathan J. Kotzin, Debby J. Park, Shubhasree Banerjee, Asako Takanohashi, Adeline Vanderver, Penn Medicine Biobank, Joshua F. Baker, Amanda V. Finck, Jonathan J. Miner
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250235.
https://doi.org/10.70962/jhi.20250235
Published: 11 May 2026
View article titled, Adult-onset STING-associated vasculopathy
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Includes: Supplementary data
Journal Articles

How I Treat: Haploinsufficiency of A20

Jonathan Li, Jeffrey Y. Zhou, Manuel Carpio Tumba, Tingyan He, Kader Cetin Gedik, Daniella M. Schwartz
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250138.
https://doi.org/10.70962/jhi.20250138
Published: 04 May 2026
View article titled, How I Treat: Haploinsufficiency of A20
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Includes: Supplementary data
Journal Articles

How I Treat: Immune dysregulation in Down syndrome

Melissa Gans, Matthew Wyke, Kayra Somay, Willa Thorson, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250161.
https://doi.org/10.70962/jhi.20250161
Published: 04 May 2026
View article titled, How I Treat: Immune dysregulation in Down syndrome
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Journal Articles

Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome

Viktoria Hennings, Jenny Lingman Framme, Karolina Thörn, Christina Lundqvist, Andri Lemarquis, Solveig Oskarsdottir, Esbjörn Telemo, Åsa Björklund, Olov Ekwall
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260011.
https://doi.org/10.70962/jhi.20260011
Published: 04 May 2026
View article titled, Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome
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Includes: Supplementary data
Journal Articles

Thymic output in human newborns is shaped by environmental exposures and a common TCRD genetic variant

Ziyang Tan, Camille Kergaravat, Laura Gonzalez, Anette Johnsson, Erika Negrini, Christian Pou, Anna Karin Bernhardsson, Hugo Barcenilla, Margarita Ivanchenko, Yang Chen, Ewa Henckel, Tadepally Lakshmikanth, Jaromír Mikeš, Anna James, Agata Cieslak, Vahid Asnafi, Jonathan Desponds, Magnus Fontes, Magali Irla, the Milieu Interieur Consortium, Darragh Duffy, Etienne Patin, Lluis Quintana-Murci, Emmanuel Clave, Antoine Toubert, Petter Brodin
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260003.
https://doi.org/10.70962/jhi.20260003
Published: 04 May 2026
View article titled, Thymic output in human newborns is shaped by environmental exposures and a common TCRD genetic variant
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Includes: Supplementary data
Journal Articles

Kawasaki disease complicated by macrophage activation syndrome treated with canakinumab

Stejara A. Netea, Diana van Stijn, Mariken P. Gruppen, J. Merlijn van den Berg, Nico A. Blom, Irene M. Kuipers, Taco W. Kuijpers
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250240.
https://doi.org/10.70962/jhi.20250240
Published: 09 April 2026
View article titled, Kawasaki disease complicated by macrophage activation syndrome treated with canakinumab
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Journal Articles

Toward a monogenic architecture of human infections: From 1996 to 2026

Jean-Laurent Casanova
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20260027.
https://doi.org/10.70962/jhi.20260027
Published: 27 March 2026
View article titled, Toward a monogenic architecture of human infections: From 1996 to 2026
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Journal Articles

Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3

Ahmad Rayes, Akshaya Ramachandran, Michael A. Pulsipher, J. Gregory Dolan, Soohee Cho, Amanda K. Johnson, Jessie L. Alexander, Simon Borna, Rosa Bacchetta
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250249.
https://doi.org/10.70962/jhi.20250249
Published: 27 March 2026
View article titled, Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3
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Includes: Supplementary data
Journal Articles

Except the unexpected: A TIPIC syndrome in a child with IPEX

Vincent Fréret, Klervie Loiselet, Benjamin Terrier, Marie-Louise Frémond, Bénédicte Neven, Agathe Escudier
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250246.
https://doi.org/10.70962/jhi.20250246
Published: 25 March 2026
View article titled, Except the unexpected: A TIPIC syndrome in a child with IPEX
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Journal Articles

Apolipoproteins L involvement in immunity

Etienne Pays
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250259.
https://doi.org/10.70962/jhi.20250259
Published: 19 March 2026
View article titled, Apolipoproteins L involvement in immunity
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Journal Articles

Quality of life of X-linked agammaglobulinemia patients in the United Kingdom

Ben Shillitoe, Helen Bourne, Catherine Stroud, Terry Flood, Matthew Buckland, Winnie Ip, Austen Worth, Scott Hackett, Archana Herwadkar, Tanya Coulter, Stephen Jolles, Tomaz Garcez, Eduardo Moya, Saul N. Faust, Mark S. Pearce, Andrew R. Gennery
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250198.
https://doi.org/10.70962/jhi.20250198
Published: 19 February 2026
View article titled, Quality of life of X-linked agammaglobulinemia patients in the United Kingdom
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Includes: Supplementary data
Journal Articles

Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision

Mattia Moratti, Beatrice Rivalta, Antonello Cardoni, Veronica Santilli, Enrico Attardi, Emma Concetta Manno, Riccardo Ciudino, Silvia Di Cesare, Cristina Cifaldi, Chiara Mengoli, Edoardo Muratore, Samuele Naviglio, Paola Selva, Simona Ferrari, Gigliola Di Matteo, Alessandro Broccoli, Nicola Cotugno, Donato Amodio, Riccardo Masetti, Elena Facchini, Pier Luigi Zinzani, Marcello Lanari, Cinzia Milito, Alberto Tommasini, Rita De Vito, Andrea Finocchi, Rita Alaggio, Elena Sabattini, Caterina Cancrini, Francesca Conti
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250174.
https://doi.org/10.70962/jhi.20250174
Published: 13 February 2026
View article titled, Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision
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Includes: Supplementary data
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

Increased prevalence of autoantibodies neutralizing IFNλ2/3 in young individuals with cystic fibrosis

Kevin Groen, Chau Tran, Roger Kuratli, Marie E. Egan, Johannes Trück, Emanuela M. Bruscia, Marc Emmenegger, Benjamin G. Hale
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250268.
https://doi.org/10.70962/jhi.20250268
Published: 12 January 2026
View article titled, Increased prevalence of autoantibodies neutralizing IFNλ2/3 in young individuals with cystic fibrosis
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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

Markers of immune dysregulation in pediatric patients with severe bronchiolitis

Katherine Hickey, Conor Gruber, Sofija Buta-Panov, Jo Hsuan Lee, Guillaume Stoffels, Sandeep Gangadharan, Alfin Vicencio, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (2): e20250133.
https://doi.org/10.70962/jhi.20250133
Published: 26 December 2025
View article titled, Markers of immune dysregulation in pediatric patients with severe bronchiolitis
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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
Open the PDF for Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease in another window
Includes: Supplementary data
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