1-5 of 5
Hye Sun Kuehn
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Grazia Fazio, Cristina Bugarin, Manuel Quadri, Stefano Rebellato, Clizia Chinello, Lisa Pagani, Federica Malighetti, Luis González Gutiérrez-Solana, Vanna Denti, Fatemeh Emam Mousavi, Miquell Raspall-Chaure, Martin-Nalda Andrea, Estibaliz Barredo, David Adams, O'Leary Melanie, Precilla D'Souza, Ellen Macnamara, Sergio Rosenzweig, Hye Sun Kuehn, Jennifer Stoddard, Heather C Mefford, Giorgia Mandrile, Lisa Pavinato, Alfredo Brusco, Patricia Valentina Velez Santamaria, Aurora Pujol, Vincent Michaud, Agathe Roubertie, Zoe Nelson, Margaret P Adam, Bernice Lo, Holm Uhlig, Claire G Salter, Emma Baple, Andrew H Crosby, Sanil Bhatia, Fulvio Magni, Giuseppe Paglia, Giovanni Cazzaniga, Rocco Piazza, Andrea Biondi, Matteo Barberis
Journal: Blood
Blood (2023) 142 (Supplement 1): 153.
https://doi.org/10.1182/blood-2023-185551
Published: 2023
Journal Articles

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Clinical Trials & Observations
Ottavia M. Delmonte, Jenna R. E. Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H. McDermott, Irene Cortese, Michael T. Zimmermann, A. Kerry Dobbs, Marita Bosticardo, Danielle Fink, Shamik Majumdar, Boaz Palterer, Francesca Pala, Nikita R. Dsouza, Marie Pouzolles, Naomi Taylor, Katherine R. Calvo, Stephen R. Daley, Daniel Velez, Anahita Agharahimi, Katherine Myint-Hpu, Lesia K. Dropulic, Jonathan J. Lyons, Steven M. Holland, Alexandra F. Freeman, Rajarshi Ghosh, Morgan B. Similuk, Julie E. Niemela, Jennifer Stoddard, Douglas B. Kuhns, Raul Urrutia, Sergio D. Rosenzweig, Magdalena A. Walkiewicz, Philip M. Murphy, Luigi D. Notarangelo
Journal: Blood
Blood (2021) 138 (12): 1019–1033.
https://doi.org/10.1182/blood.2020008629
Published: 2021
Includes: Supplemental data
Journal Articles

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel, Mary Hintermeyer, Raul Jimenez Heredia, Mary Garofalo, Laura Lucas, Smriti Singh, Annalisa Tondo, Zachary Jacobs, William A. Gahl, Sylvain Latour, James Verbsky, John Routes, Charlotte Cunningham-Rundles, Kaan Boztug, Eleonora Gambineri, Thomas A. Fleisher, Shanmuganathan Chandrakasan, Sergio D. Rosenzweig
Journal: Blood
Blood (2021) 137 (3): 349–363.
https://doi.org/10.1182/blood.2020007292
Published: 2021
Includes: Supplemental data
Journal Articles

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype

Hye Sun Kuehn, Julie E. Niemela, Karthik Sreedhara, Jennifer L. Stoddard, Jennifer Grossman, Christian A. Wysocki, M. Teresa de la Morena, Mary Garofalo, Jingga Inlora, Michael P. Snyder, David B. Lewis, Constantine A. Stratakis, Thomas A. Fleisher, Sergio D. Rosenzweig
Journal: Blood
Blood (2017) 130 (13): 1553–1564.
https://doi.org/10.1182/blood-2017-05-782177
Published: 2017
Includes: Supplemental data
Journal Articles

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Hye Sun Kuehn, Julie E. Niemela, Andreia Rangel-Santos, Mingchang Zhang, Stefania Pittaluga, Jennifer L. Stoddard, Ashleigh A. Hussey, Moses O. Evbuomwan, Debra A. Long Priel, Douglas B. Kuhns, C. Lucy Park, Thomas A. Fleisher, Gulbu Uzel, João B. Oliveira
Journal: Blood
Blood (2013) 121 (16): 3117–3125.
https://doi.org/10.1182/blood-2012-12-469544
Published: 2013
Includes: Supplemental data