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Journal Articles

A First-in-Human Base Edit Gene Therapy for CD40L Deficiency X-Linked Hyper IgM (XHIGM) Syndrome

Suk See De Ravin, Tyra Estwick, Yuzhi Yin, Michelle Ma, Siyuan Liu, Xiaolin Wu, Justin Lack, Andres Zea Vera, Colin Sweeney, Stephen L. Highfill, Christian Wysocki, Ronald J. Meis, Gary A. Dahl, Benjamin P. Kleinstiver, Harry L. Malech

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.1.

https://doi.org/10.70962/CIS2026abstract.1

Published: 01 May 2026

View article titled, A First-in-Human Base Edit Gene Therapy for CD40L Deficiency X-Linked Hyper IgM (XHIGM) Syndrome

Journal Articles

Novel Pathogenic Variant in IL2RG Affecting the Signal Peptide Results in mRNA Instability, Decreased IL2RG Expression, and Atypical Late-Onset Immunodeficiency

Muslima Hussain, Nisha Nagarsheth, Julia Jones, Irene Cortese, Corina Gonzalez, Suk See De Ravin, Xiaolin Wu, Michelle Ma, Hyesun Kuehn, Sergio Rosenzweig, Alan Hoofring, Hannah Ambrose, Matthew Drew, Dominic Esposito, Sung-Yun Pai

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.81.

https://doi.org/10.70962/CIS2026abstract.81

Published: 01 May 2026

View article titled, Novel Pathogenic Variant in IL2RG Affecting the Signal Peptide Results in mRNA Instability, Decreased IL2RG Expression, and Atypical Late-Onset Immunodeficiency