T cell deficiencies
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Journal Articles

Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies

Annelotte J. Duintjer, Maartje Blom, Robbert G.M. Bredius, Ingrid Pico-Knijnenburg, Adinda Heuperman, Hennie Hodemaekers, Sandra Imholz, Martijn E.T. Dollé, Ruben B. Brandsema, Lisette van de Corput, Stefanie S. Henriet, Taco W. Kuijpers, Joris M. van Montfrans, Clementien L. Vermont, Gijs T.J. van Well, Evelien Zonneveld-Huijssoon, Els Voorhoeve, Mariëlle E. van Gijn, Mirjam van der Burg
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260031.
https://doi.org/10.70962/jhi.20260031
Published: 16 July 2026
View article titled, Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies
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Includes: Supplementary data
Journal Articles

Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation

Samantha Cresoe-Ortiz, Guglielmo Venturi, Elizabeth A. McCarthy, Benjamin Stewart-Bates, Jennifer R. Heimall, Eveline Y. Wu, John W. Sleasman, Geoffrey Hall
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260016.
https://doi.org/10.70962/jhi.20260016
Published: 26 May 2026
View article titled, Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation
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Includes: Supplementary data
Journal Articles

FAS-controlled T cells drive lymphoproliferation through glycolysis without effector differentiation

Maria Elena Maccari, Christoph König, Geoffroy Andrieux, Patrick Kury, Sarah A. Berger, Jasmin Mann, Beth Kelly, Simon Völkl, Chenglong Huang, Martin Helmstädter, Simon Lagies, Marco Fischer, Francesc Baixauli, Oliver Gorka, Olaf Groß, Markus Hufnagel, Sarah Salou, Susan Farmand, Sabine Heine, Volker Schuster, Wolfgang Willenbacher, Gregor Dückers, Bodo Grimbacher, Klaus Warnatz, Friedrich G. Kapp, Myriam Lorenz, Miriam Groß, Jens Wittner, Roland Elling, Luca Scorrano, Iwona A. Koenig, Bertram Bengsch, Carsten Speckmann, Bernd Kammerer, Melanie Börries, Klaus Schwarz, Johannes Hertel, Erika L. Pearce, Stephan Ehl, Ramon I. Klein Geltink, Anne Rensing-Ehl
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250233.
https://doi.org/10.70962/jhi.20250233
Published: 13 May 2026
View article titled, FAS-controlled T cells drive lymphoproliferation through glycolysis without effector differentiation
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Includes: Supplementary data
Journal Articles

Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia

Sujal Ghosh, Yuqin Wang, Christoph Schultheiss, Arndt Borkhardt, Angelique Sanchez Dafun, Liisa Knipp, Sebastian Marwitz, Stephan Ehl, Clara Soulard, Elie Haddad, Debayan Dey, Grace Evans, Zainab M. Golwala, Sabrina B. Bennstein, Hans-Jürgen Laws, Meino Rohlfs, Thomas Magg, Mascha Binder, Alexandra Y. Kreins, Marie-Pierre Bousquet, Julien Marcoux, Christoph Klein, Graeme L. Conn, Silke Meiners, Fabian Hauck
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250129.
https://doi.org/10.70962/jhi.20250129
Published: 09 April 2026
View article titled, Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia
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Includes: Supplementary data
Journal Articles

Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Annelotte J. Duintjer, Robbert G.M. Bredius, J. Merlijn van den Berg, Lisette van de Corput, Willem A. Dik, Mariëlle E. van Gijn, Stefanie S. Henriet, Evelien A. Kemper, Taco W. Kuijpers, G. Elizabeth Legger, Joris M. van Montfrans, Liesbeth H. Schölvinck, Clementien L. Vermont, Els Voorhoeve, Gert Weijman, Gijs T.J. van Well, Evelien Zonneveld-Huijssoon, Mirjam van der Burg, Maartje Blom
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250205.
https://doi.org/10.70962/jhi.20250205
Published: 05 February 2026
View article titled, Managing non-SCID T cell lymphopenia after TREC-based newborn screening
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Includes: Supplementary data
Journal Articles

Autoantibodies neutralizing type 1 interferons in two cohorts of people with HIV

Julie A. Jensen, Nanna Mørk, Martin Tolstrup, Ole Søgaard, Thomas Dalhuisen, Antonio Rodriguez, Rebecca Hoh, Michael J. Peluso, Steven G. Deeks, Jean-Laurent Casanova, Trine H. Mogensen
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250179.
https://doi.org/10.70962/jhi.20250179
Published: 30 January 2026
View article titled, Autoantibodies neutralizing type 1 interferons in two cohorts of people with HIV
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Includes: Supplementary data
Journal Articles

Recurrent severe viral infection in a child with inherited complete TBK1 deficiency

Sara Sebnem Kilic, Shuxiang Zhao, Zhiyong Liu, Yasin Karali, Koray Yalcin, Aaron Bodansky, Debanjana Chakravarty, Michael Wilson, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250058.
https://doi.org/10.70962/jhi.20250058
Published: 03 December 2025
View article titled, Recurrent severe viral infection in a child with inherited complete TBK1 deficiency
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Includes: Supplementary data
Journal Articles

Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic

Marie Materna, Christian Beetz, Christian A. Ganoza, Caroline Deswarte, Lucien Pereira Estrela, Nima Parvaneh, Jean-Laurent Casanova, Vivien Béziat
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250155.
https://doi.org/10.70962/jhi.20250155
Published: 19 November 2025
View article titled, Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic
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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

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset

Tahereh Noori, Anit Kaur, Altaf Hussain Kambay, Aaqib Zaffar Banday, Ilia Voskoboinik
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250100.
https://doi.org/10.70962/jhi.20250100
Published: 07 October 2025
View article titled, Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset
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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

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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