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Journal Articles

Investigating Hidden Drivers of Progressive Multifocal Leukoencephalopathy in the NIH Natural History Cohort

Busranur Agac, Jessica Durkee-Shock, Sara Zahraeifard, Mauricio Campillay, Ezra Klein, Alexandra F. Freeman, Jenna Bergerson, Ottavia Delmonte, Lindsey B. Rosen, Annalie J. Harris, Megan Cooper, Luigi D. Notarangelo, Christa S. Zerbe, Steven M. Holland, Gulbu Uzel, NIAID Central Sequencing Program, Yair Mina, Irene Cortese
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.219.
https://doi.org/10.70962/CIS2026abstract.219
Published: 01 May 2026
View article titled, Investigating Hidden Drivers of Progressive Multifocal Leukoencephalopathy in the NIH Natural History Cohort
Journal Articles

Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?

Dimana Dimitrova, Luigi Notarangelo, Gulbu Uzel, Alexandra Freeman, Jeffrey Cohen, Jessenia Campos, Amy Chai, Alison Cusmano, Mustafa Hyder, Ralph Mangusan, Ruby Sabina, Judy Baruffaldi, Kristen Cole, Jennifer Wilder, Jenna Bergerson, Jessica Durkee-Shock, Steven Holland, Andrea Lisco, Harry Malech, Christopher Melani, Amanda Ombrello, Mark Roschewski, Irini Sereti, Christa Zerbe, Jennifer Cuellar-Rodriguez, Mary Czech, Juan Gea-Banacloche, Christopher Kanakry, Jennifer Kanakry
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.224.
https://doi.org/10.70962/CIS2026abstract.224
Published: 01 May 2026
View article titled, Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?
Includes: Supplementary data
Journal Articles

Allogeneic Hematopoietic Cell Transplantation for SASH3 Deficiency

Danielle Arnold, Jenna Bergerson, Luigi Notarangelo, Sung-Yun Pai, Ottavia Delmonte
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.123.
https://doi.org/10.70962/CIS2026abstract.123
Published: 01 May 2026
View article titled, Allogeneic Hematopoietic Cell Transplantation for SASH3 Deficiency
Journal Articles

NFKB1 Truncating Variants Associated with Significant Autoimmunity and Lymphoproliferation in Common Variable Immunodeficiency

Chi Ma, Chen Wang, Jenna Bergerson, Alexandra Freeman, V. Koneti Rao, Gulbu Uzel
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.222.
https://doi.org/10.70962/CIS2026abstract.222
Published: 01 May 2026
View article titled, NFKB1 Truncating Variants Associated with Significant Autoimmunity and Lymphoproliferation in Common Variable Immunodeficiency
Journal Articles

Elevated CD38 Expression and a Concomitant Reduction in NAD+ Levels Underlie CD8+ T Cell Dysfunction in STAT1 GOF

Andrea Mauracher, Samir Sayed, Jose Campos, Peyton Conrey, Montana Knight, Ceire Hay, James Davis, Lucien Turner, Gabriel Adzika, Robert Lindell, Katelyn J McCann, Asako Takanohashi, Alexander Vargas-Hernandez, Adeline Vanderver, Michael Keller, Jennifer Leiding, Lisa R Forbes Satter, Caroline Diorio, Joseph A Baur, Will Bailis, Jenna Bergerson, Steven Holland, Alexandra Freeman, Sarah Henrickson
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.118.
https://doi.org/10.70962/CIS2025abstract.118
Published: 25 April 2025
View article titled, Elevated CD38 Expression and a Concomitant Reduction in NAD+ Levels Underlie CD8+ T Cell Dysfunction in STAT1 GOF
Journal Articles

Norovirus Infection at the NIH Clinical Center from 2010 to 2023: A Comparative Analysis of Acute vs. Chronic Norovirus Infection with a Focus on Inborn Errors of Immunity

Karenna Barton, Natthawan Chaimongkol, Courtney Ahorrio, Krista Gangler, Maria Ploussiou, Kelly Liepshutz, Kayla Morgan, Harry Malech, Ottavia Delmonte, Gulbu Uzel, V. Rao, Steven Holland, Alexandra Freeman, Ivan Fuss, Suk See De Ravin, Christa Zerbe, Jenna Bergerson, Andrea Lisco, Jennifer Kanakry, Dimana Dimitrova, James Kochenderfer, Kevin Camphausen, Alan Wayne, Dan Fowler, Georg Aue, Richard Childs, Minoo Battiwala, Jeffrey Cohen, Stanislav Sosnovtsev, Michael Keller, Kim Green, Jessica Durkee-Shock
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.95.
https://doi.org/10.70962/CIS2025abstract.95
Published: 25 April 2025
View article titled, Norovirus Infection at the NIH Clinical Center from 2010 to 2023: A Comparative Analysis of Acute vs. Chronic Norovirus Infection with a Focus on Inborn Errors of Immunity
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