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Journal Articles

SHP1 (PTPN6) Deficiency Defines a New PIRD with Infant-Onset Anemia and Severe Hyperinflammatory Lung Disease

Farsh Moussavi-Harami, Matt Zinter, Marialetizia Motta, Luca Pannone, Paolo Calligari, Anne Slavotinek, Pierre-Marie Martin, Henry Sanchez, Lauren Sanchez, Iman Ragab, Clare Abram, Martin Broly, Yasmina Abi Ayad, Amina Serradj, Guilaine Boursier, Aida M. Bertoli-Avella, Mukunth Sadagapan, Amy Hsu, Steven Holland, Gianfranco Bocchinfuso, Lorenzo Stella, Simone Martinelli, Bruno Reversade, Marco Tartaglia, Clifford Lowell, Mark R. Looney, Alice Chan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.18.
https://doi.org/10.70962/CIS2026abstract.18
Published: 01 May 2026
View article titled, SHP1 (PTPN6) Deficiency Defines a New PIRD with Infant-Onset Anemia and Severe Hyperinflammatory Lung Disease
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

The Role of IFNγ in the Pathogenesis of Good Syndrome

Iivo Hetemaeki, Wang Chen, Rachel Wu, Sebastian Ochoa, Alexandra F. Freeman, Katherine Calvo, Steven Holland, Stefania Pittaluga, Mihalis S. Lionakis
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.19.
https://doi.org/10.70962/CIS2026abstract.19
Published: 01 May 2026
View article titled, The Role of IFNγ in the Pathogenesis of Good Syndrome
Journal Articles

Prevention of Irreversible Autoimmune Endocrinopathies in APECED with Ruxolitinib

Joseph Pechacek, Taura Webb, Lucas dos Santos Dias, Rachel Wu, Heather Moorman, Princess Barber, Lindsey Rosen, Benjamin Colton, Herodes Guzman, Maria Sacta, Shana McCormack, Aaron Bennett, Kathleen Loomes, Neil Romberg, Niamh McGrath, Steven Holland, Theo Heller, Karen Winer, Stefania Pittaluga, Michail Lionakis
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.89.
https://doi.org/10.70962/CIS2026abstract.89
Published: 01 May 2026
View article titled, Prevention of Irreversible Autoimmune Endocrinopathies in APECED with Ruxolitinib
Journal Articles

Development of a Quantitative Measure of Lung Disease Severity in STAT3 Hyper-Ige Syndrome

Chen Wang, Jonathan Fintzi, Jing Wang, Amanda Urban, Steven Holland, Alexandra Freeman
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.207.
https://doi.org/10.70962/CIS2026abstract.207
Published: 01 May 2026
View article titled, Development of a Quantitative Measure of Lung Disease Severity in STAT3 Hyper-Ige Syndrome
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

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

Therapeutic Use of Recombinant Interferon-Gamma in Patients with Refractory Disseminated Coccidioidomycosis

Chen Wang, Brenna LaBere, Michell Lozano Chinga, Keith Sacco, Wassim Ballan, James Woodward, Scott Ostdiek, Matthew Smith, Annalie Harris, Lindsey Rosen, Victoria Anderson, Janine Daub, Cindy Palmer, Fariba Donovan, John Galgiani, Alexandra Freeman, Christa Zerbe, Steven Holland
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.146.
https://doi.org/10.70962/CIS2025abstract.146
Published: 25 April 2025
View article titled, Therapeutic Use of Recombinant Interferon-Gamma in Patients with Refractory Disseminated Coccidioidomycosis
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
Journal Articles

Anti-Cytokine Autoantibodies in Inborn Errors of Immunity with Immune Dysregulation

Su-Wan Bianca Chan, Steven Holland, Lindsey Rosen, Alexandra Freeman, Gulbu Uzel, Luigi Notarangelo, Elizabeth Karanja, Chioma Udemgba
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.108.
https://doi.org/10.70962/CIS2025abstract.108
Published: 25 April 2025
View article titled, Anti-Cytokine Autoantibodies in Inborn Errors of Immunity with Immune Dysregulation
Journal Articles

Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation

Elizabeth Schmitz, Alexander Paul, Rajarshi Ghosh, Nermina Saucier, Ana Kolicheski, Sammy Risma, Tiphanie Vogel, Eric Allenspach, David Hoytema van Konijnenburg, Craig Platt, Megan Elkins, Jolan Walter, Katie Lewis, Adriana de Jesus, Raphaela Goldbach-Mansky, Jessica Durkee-Shock, Jeffrey Cohen, Irini Sereti, Andrea Lisco, Ottavia Delmonte, Luigi Notarangelo, V. Rao, Morgan Similuk, Steven Holland, Malachi Griffith, Obi Griffith, Magdalena Walkiewicz, Megan Cooper
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.120.
https://doi.org/10.70962/CIS2025abstract.120
Published: 25 April 2025
View article titled, Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation
Journal Articles

Primary Immunodeficiency Initially Identified as Sarcoidosis

Samantha Shafer, Chioma Udemgba, Beatriz Marciano, Amy Hsu, Christa Zerbe, Gulbu Uzel, Harry Malech, Jeffrey Cohen, Joseph Fontana, Jessica Durkee-Shock, Ottavia Delmonte, Steven Holland
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.171.
https://doi.org/10.70962/CIS2025abstract.171
Published: 25 April 2025
View article titled, Primary Immunodeficiency Initially Identified as Sarcoidosis
Journal Articles

Diverse Clinical Presentations of Primary Hemophagocytic Lymphohistiocytosis in Adulthood

Joseph Rocco, William Johnson, Logan Cook, Whitney Ewing, Steven Horwitz, Alison Moskowitz, Jennifer Kennedy, A. Zara Herskovits, Victoria Anderson, Steven Holland, Irini Sereti, Joseph Oved
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.193.
https://doi.org/10.70962/CIS2025abstract.193
Published: 25 April 2025
View article titled, Diverse Clinical Presentations of Primary Hemophagocytic Lymphohistiocytosis in Adulthood
Journal Articles

Successful Treatment of Refractory Disseminated Coccidioidomycosis with Adjunctive Interferon-γ

Annalie Harris, Jennifer Treat, Gail Holt, Samantha Kreuzburg, Lindsey Rosen, Steven Holland, Christa Zerbe
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.78.
https://doi.org/10.70962/CIS2025abstract.78
Published: 25 April 2025
View article titled, Successful Treatment of Refractory Disseminated Coccidioidomycosis with Adjunctive Interferon-γ
Journal Articles

Unmasking NCF1 Gene Defects: Atypical Presentations of p47phox Deficiency in Chronic Granulomatous Disease

Gail Budhu, Douglas Kuhns, Joie Davis, Steven Holland, Hanadys Ale
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.92.
https://doi.org/10.70962/CIS2025abstract.92
Published: 25 April 2025
View article titled, Unmasking NCF1 Gene Defects: Atypical Presentations of p47phox Deficiency in Chronic Granulomatous Disease
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