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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

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

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

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

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 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

Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI)

Ahmet Eken, Sara Johnson, Serife Erdem, Elena W.Y. Hsieh
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250045.
https://doi.org/10.70962/jhi.20250045
Published: 10 September 2025
View article titled, Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI)
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Journal Articles

Rheumatologic and autoimmune features of inborn errors of immunity: Implications for diagnosis and management

Joshua M. Tobin, Megan A. Cooper
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250034.
https://doi.org/10.70962/jhi.20250034
Published: 23 July 2025
View article titled, Rheumatologic and autoimmune features of inborn errors of immunity: Implications for diagnosis and management
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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

Immunotherapy as rescue for cardiomyopathy in Omenn syndrome

Simon Boutinaud, Vincent Barlogis, Lionel Berthomieu, Montserrat Sierra Colomina, Marlène Pasquet
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250046.
https://doi.org/10.70962/jhi.20250046
Published: 23 June 2025
View article titled, Immunotherapy as rescue for cardiomyopathy in Omenn syndrome
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