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Journal Articles

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening

Kristine Jeganathan, Adam Byrne, Gabrielle White, Eyal Grunebaum, Elie Haddad, Michael S. Hershfield, Teresa K. Tarrant, Matthew P.A. Henderson, Anne Pham-Huy
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250102.
https://doi.org/10.70962/jhi.20250102
Published: 10 November 2025
View article titled, Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening
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Journal Articles

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

Pauline Ober, Christelle Lenoir, Arnaud Maillard, Marie-Gabrielle Vigue, Marjolaine Willems, Sandrine Baron-Joly, Carole E. Aubert, Eva Maria Tinner, Nathalie Lambert, Iben El Missaoui, Frédéric Parisot, Antoine Fayand, Yoann Seeleuthner, Sylvain Hanein, Tom Le Voyer, Martin Broly, Guilaine Boursier, Jean-Laurent Casanova, Peng Zhang, Jana Pachlopnik Schmid, Sylvain Latour, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250181.
https://doi.org/10.70962/jhi.20250181
Published: 30 October 2025
View article titled, A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
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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

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

Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis

Marat Kribis, Bradly M. Bauman, Cullen M. Dutmer, Jordan Abbott, Jason Catanzaro, Carrie L. Lucas
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250085.
https://doi.org/10.70962/jhi.20250085
Published: 13 August 2025
View article titled, Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-δ syndrome 2 with hypogammaglobulinemia and bronchiectasis
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Includes: Supplementary data
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