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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

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

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

Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases

Adrian Gervais, Alessandro Borghesi, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250090.
https://doi.org/10.70962/jhi.20250090
Published: 23 October 2025
View article titled, Auto-Abs against type I IFNs: Strong, common, and global determinants of severe arboviral diseases
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Journal Articles

Cartilage-hair hypoplasia: A comprehensive review

Svetlana Vakkilainen
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250142.
https://doi.org/10.70962/jhi.20250142
Published: 01 October 2025
View article titled, Cartilage-hair hypoplasia: A comprehensive review
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Includes: Supplementary data
Journal Articles

Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening

Thomas J. Weitering, Dagmar Berghuis, Maartje Blom, Michel A.A.P. Willemsen, Mirjam van der Burg
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250052.
https://doi.org/10.70962/jhi.20250052
Published: 17 September 2025
View article titled, Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening
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Includes: Supplementary data
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

Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel

Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250064.
https://doi.org/10.70962/jhi.20250064
Published: 18 August 2025
View article titled, Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel
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Journal Articles

MAGIS syndrome: Phenotypes, pathogenesis, and treatment

Ian T. Lamborn, Huie Jing, Eesha Chattopadhyay, Hyoungjun Ham, Yu Zhang, Helen C. Su
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250065.
https://doi.org/10.70962/jhi.20250065
Published: 14 August 2025
View article titled, MAGIS syndrome: Phenotypes, pathogenesis, and treatment
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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

IKZF-associated inborn errors of immunity

Motoi Yamashita, Tomohiro Morio
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250063.
https://doi.org/10.70962/jhi.20250063
Published: 18 July 2025
View article titled, IKZF-associated inborn errors of immunity
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Includes: Supplementary data
Journal Articles

Human genetic influences on early B cell development

Anna-Lena Neehus, Neil Romberg, Vijay G. Sankaran
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250042.
https://doi.org/10.70962/jhi.20250042
Published: 25 June 2025
View article titled, Human genetic influences on early B cell development
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Journal Articles

Inborn errors of immunity affecting the MHC class I pathway for antigen presentation

Stephan D. Gadola, Ömür Ardeniz, Angelica Cuapio, Jacques Zimmer, Hans-Gustaf Ljunggren
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (2): e20250029.
https://doi.org/10.70962/jhi.20250029
Published: 11 June 2025
View article titled, Inborn errors of immunity affecting the MHC class I pathway for antigen presentation
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Journal Articles

Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy

Callie C.Y. Wong, Tifenn Wauquier, Carolina Uggenti, Colin Stok, Alice Lepelley, Marie-Louise Frémond, Yanick J. Crow
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (2): e20250035.
https://doi.org/10.70962/jhi.20250035
Published: 04 June 2025
View article titled, Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy
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Includes: Supplementary data
Journal Articles

Revisiting X-linked agammaglobulinemia

Hirokazu Kanegane, Kay Tanita, Madoka Nishimura, Dan Tomomasa, Kento Inoue, Toru Kanamori, Akira Nishimura, Hans D. Ochs
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (1): e20250020.
https://doi.org/10.70962/jhi.20250020
Published: 28 April 2025
View article titled, Revisiting X-linked agammaglobulinemia
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