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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

Disease-Causing STAT3 Variants Can Be Discriminated by a Functional Flow Cytometry Test

Ana Esteve-Sole, Alexandra F. Freeman, Amy Hsu, Tiphanie P. Vogel, Lisa R. Forbes Satter, Jenna R.E. Bergerson, Taura Webb, Joseph Pechacek, Kristen McDaniels, Megan A. Cooper, Carolina Bouso, Matias Oleastro, Silvia Denielian, Luis Ignacio Gonzalez-Granado, Michail S. Lionakis, Steven M. Holland, Thomas A. Fleisher, HyeSun Kuehn, Sergio Rosenzweig
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.208.
https://doi.org/10.70962/CIS2026abstract.208
Published: 01 May 2026
View article titled, Disease-Causing STAT3 Variants Can Be Discriminated by a Functional Flow Cytometry Test
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
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