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Journal Articles

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

J Hum Immun (2026) 2 (2): e20250245.

https://doi.org/10.70962/jhi.20250245

Published: 10 February 2026

View article titled, Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

Journal Articles

Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease

Valentina Guarnieri, Jesmeen Maimaris, Sohilla Lotfy, Elizabeth Rivers, Stuart Adams, Kimberly Gilmour, Andrea Meinhardt, Arnold Awuah, Mercedes Selby, Daisy Shillingford, Emma Gravett, Susanne Kricke Orszulik, Waseem Qasim, David Goldblatt, Helen Braggins, Robert Chiesa, Maaike Kusters, Reem Elfeky

J Hum Immun (2026) 2 (2): e20250076.

https://doi.org/10.70962/jhi.20250076

Published: 06 February 2026

View article titled, Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease

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

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

Includes: Supplementary data

Journal Articles

Acute necrotizing encephalopathy associated with COVID-19 in a pediatric patient and a systematic review

Kanako Takeuchi, Yuichi Tateishi, Kosuke Ashihara, Takanori Utsumi, Yoshiyuki Kobayashi, Takaki Asano, Satoshi Okada

J Hum Immun (2026) 2 (2): e20250101.

https://doi.org/10.70962/jhi.20250101

Published: 04 February 2026

View article titled, Acute necrotizing encephalopathy associated with COVID-19 in a pediatric patient and a systematic review

Includes: Supplementary data

Journal Articles

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

J Hum Immun (2026) 2 (2): e20250073.

https://doi.org/10.70962/jhi.20250073

Published: 30 January 2026

View article titled, Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

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

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

Includes: Supplementary data

Journal Articles

Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

Sarah Cook, Kranthi Nomula, Claire E. Cross, Hwi M. Gil, Joseph M. Choi, Saara Kaviany, James A. Connelly, Christopher C. Chang, Janet G. Markle

J Hum Immun (2026) 2 (2): e20250201.

https://doi.org/10.70962/jhi.20250201

Published: 23 January 2026

View article titled, Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

Includes: Supplementary data

Journal Articles

Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel C1QB pathogenic variant

Clément Triaille, Guilhem Cros, Andrei-Bogdan Gorgos, Hélène Manganas, Anaïs Nombel, Eric Rich, Philippe Romeo, Sébastien Viel, Hugo Chapdelaine

J Hum Immun (2026) 2 (2): e20250128.

https://doi.org/10.70962/jhi.20250128

Published: 22 January 2026

View article titled, Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel C1QB pathogenic variant

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

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

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

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

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

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

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

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

Includes: Supplementary data

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

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

Journal Articles

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

Alessandro Aiuti, Luigi D. Notarangelo

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)

Journal Articles

Good? A very long COVID-19

Quentin Philippot, Marie-Pierre Debray, Alice Guyard, Antoine Achkar, Tom Le Voyer, Quentin Le Hingrat, Bruno Crestani, Raphaël Borie

J Hum Immun (2025) 2 (1): e20250178.

https://doi.org/10.70962/jhi.20250178

Published: 26 December 2025

View article titled, Good? A very long COVID-19

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

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

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

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

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

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

Includes: Supplementary data

Journal Articles

Chronic Granulomatous Disease: A Case Series

E. Inocente, C. Renteria, G. Pérez, M. Lopez, E. Matos

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.60.

https://doi.org/10.70962/LASID2025abstract.60

Published: 22 December 2025

View article titled, Chronic Granulomatous Disease: A Case Series

Journal Articles

Chemotherapy-Induced Severe Immunodeficiency Mimicking Primary Immunodeficiency: A Diagnostic Challenge

Cristhel Puente, Joel Calero

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.6.

https://doi.org/10.70962/LASID2025abstract.6

Published: 22 December 2025

View article titled, Chemotherapy-Induced Severe Immunodeficiency Mimicking Primary Immunodeficiency: A Diagnostic Challenge

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Journal

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Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease

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

Acute necrotizing encephalopathy associated with COVID-19 in a pediatric patient and a systematic review

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

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

Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel C1QB pathogenic variant

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

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

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

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

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

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

Good? A very long COVID-19

Immune dysregulation from a novel CTLA-4 haploinsufficiency variant

Markers of immune dysregulation in pediatric patients with severe bronchiolitis

Viral infection and brain inflammation with seizures in PARK7 deficiency

Chronic Granulomatous Disease: A Case Series

Chemotherapy-Induced Severe Immunodeficiency Mimicking Primary Immunodeficiency: A Diagnostic Challenge

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