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Sung-Yun Pai
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Journal Articles

DOCK8 Deficiency: Extended Clinical Phenotypes and the Impact of Somatic Reversions

Alexandra Freeman, Chen Wang, Grace Suh, Layne Oram, Huie Jing, Basak Kayaoglu, Su-Wan Bianca Chan, Annalie Harris, Lindsey Rosen, Sanathanasabapathy Rajasekaran, Amanda Urban, Andrea Lisco, Gulbu Uzel, Dennis Hickstein, Nirali Shah, Sung-Yun Pai, Corina Gonalez, Steven Holland, Heidi Kong, Helen Su
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.106.
https://doi.org/10.70962/CIS2025abstract.106
Published: 25 April 2025
View article titled, DOCK8 Deficiency: Extended Clinical Phenotypes and the Impact of Somatic Reversions
Journal Articles

A Novel Dominant Negative Variant in IL2RG Gene that Failed to Be Corrected by Lentiviral Gene Therapy

Muslima Hussain, Nisha Nagarsheth, Julia Jones, Jack Bleesing, Sharat Chandra, Rebecca Marsh, Colleen Dansereau, Meaghan O'Donnell, Olivia Silva, Bridget Kerwin, Suk See De Ravin, Susan Prockop, David Williams, Sung-Yun Pai
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.177.
https://doi.org/10.70962/CIS2025abstract.177
Published: 25 April 2025
View article titled, A Novel Dominant Negative Variant in IL2RG Gene that Failed to Be Corrected by Lentiviral Gene Therapy
Journal Articles

Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey

Christin Deal, Anika Jain, Danielle Arnold, Suhag Parikh, Rebecca Marsh, Aleksandra Petrovic, Kanwaldeep Mallhi, Deepak Chellapandian, Eyal Grunebaum, E Liana Falcone, Luis Murguia-Favela, Elizabeth Kang, Harry Malech, Christopher Dvorak, Elie Haddad, Donald Kohn, Linda Griffith, Luigi Notarangelo, Michael A. Pulsipher, Alice Chan, Lauri Burroughs, Mort Cowan, Sung-Yun Pai, Troy Torgerson, Jennifer Puck, Jennifer Heimall, Felicia Morton, Jennifer Leiding
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.2.
https://doi.org/10.70962/CIS2025abstract.2
Published: 25 April 2025
View article titled, Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey
Journal Articles

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Bertrand Boisson, Emmanuel Laplantine, Kerry Dobbs, Aurélie Cobat, Nadine Tarantino, Melissa Hazen, Hart G.W. Lidov, Gregory Hopkins, Likun Du, Aziz Belkadi, Maya Chrabieh, Yuval Itan, Capucine Picard, Jean-Christophe Fournet, Hermann Eibel, Erdyni Tsitsikov, Sung-Yun Pai, Laurent Abel, Waleed Al-Herz, Jean-Laurent Casanova, Alain Israel, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2015) 212 (6): 939–951.
https://doi.org/10.1084/jem.20141130
Published: 25 May 2015
View article titled, Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
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Includes: Supplementary data
Journal Articles

Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3

Cristina de Guzman Strong, Philip W. Wertz, Chenwei Wang, Fan Yang, Paul S. Meltzer, Thomas Andl, Sarah E. Millar, I-Cheng Ho, Sung-Yun Pai, Julia A. Segre
Journal: Journal of Cell Biology
J Cell Biol (2006) 175 (4): 661–670.
https://doi.org/10.1083/jcb.200605057
Published: 20 November 2006
View article titled, Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3
Open the PDF for Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3 in another window
Includes: Supplementary data