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Sergio D. Rosenzweig
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Journal Articles

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them

Available to Purchase
Ainsley V. C. Knox, Lauren Y. Cominsky, Di Sun, Emylette Cruz Cabrera, Brian E. Nolan, Edann Ofray, Elisa Benetti, Camilla Visconti, Federica Barzaghi, Sergio D. Rosenzweig, Monica G. Lawrence, Kathleen E. Sullivan, Samuel Yoon, Suzanna Rachimi, Nurcicek Padem, Erin Conboy, Maja Stojanovic, Gordana Petrovic, Srdjan Pasic, Joseph Church, Ronald M. Ferdman, Fabio Candotti, Tiphaine Arlabosse, Katerina Theodoropoulou, Cullen M. Dutmer, László Maródi, Gabriella Szücs, Arnon Broides, Amit Nahum, Jacov Levy, Kaisa Kettunen, Ravindra Daddali, Mikko Seppänen, Markku Vänttinen, Timi Martelius, Juha Grönholm, Matilde Peri, Chiara Azzari, Silvia Ricci, Samar Ojaimi, Emily S. J. Edwards, Menno C. van Zelm, Jinqiao Sun, Hassan Abolhassani, Qiang Pan-Hammarström, Hakon Hakonarson, Daniel Mayr, Kaan Boztug, Bertrand Boisson, Jean-Laurent Casanova, Carole Le Coz, Gregory M. K. Poon, Neil Romberg
Journal: Blood
Blood (2025) 145 (22): 2549–2560.
https://doi.org/10.1182/blood.2024026683
Published: 2025
Includes: Supplemental data
Journal Articles

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

Free
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

Free
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

Effective “activated PI3Kδ syndrome”–targeted therapy with the PI3Kδ inhibitor leniolisib

Free
Clinical Trials & Observations
V. Koneti Rao, Sharon Webster, Virgil A. S. H. Dalm, Anna Šedivá, P. Martin van Hagen, Steven Holland, Sergio D. Rosenzweig, Andreas D. Christ, Birgitte Sloth, Maciej Cabanski, Aniket D. Joshi, Stefan de Buck, Julie Doucet, Danilo Guerini, Christoph Kalis, Ilona Pylvaenaeinen, Nicolas Soldermann, Anuj Kashyap, Gulbu Uzel, Michael J. Lenardo, Dhavalkumar D. Patel, Carrie L. Lucas, Christoph Burkhart
Journal: Blood
Blood (2017) 130 (21): 2307–2316.
https://doi.org/10.1182/blood-2017-08-801191
Published: 2017
Includes: Supplemental data
Journal Articles

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

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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

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea

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Chi A. Ma, Liqiang Xi, Brian Cauff, Adam DeZure, Alexandra F. Freeman, Sophie Hambleton, Gary Kleiner, T. Ronan Leahy, Maureen O’Sullivan, Michelle Makiya, Grainne O’Regan, Stefania Pittaluga, Julie Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Mark Raffeld, Amy D. Klion, Joshua D. Milner
Journal: Blood
Blood (2017) 129 (5): 650–653.
https://doi.org/10.1182/blood-2016-09-737817
Published: 2017
Includes: Supplemental data
Journal Articles

Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations

Free
Nour Abdulhay, Claudia Fiorini, Attila Kumánovics, Ashleigh A. Sun, Jeannette Hansen-Rejali, Karl V. Voelkerding, Sergio D. Rosenzweig, Harry R. Hill, Vijay G. Sankaran
Journal: Blood
Blood (2016) 128 (16): 2100–2103.
https://doi.org/10.1182/blood-2016-08-731943
Published: 2016
Journal Articles

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia

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Clinical Trials & Observations
Karthik A. Ganapathi, Danielle M. Townsley, Amy P. Hsu, Diane C. Arthur, Christa S. Zerbe, Jennifer Cuellar-Rodriguez, Dennis D. Hickstein, Sergio D. Rosenzweig, Raul C. Braylan, Neal S. Young, Steven M. Holland, Katherine R. Calvo
Journal: Blood
Blood (2015) 125 (1): 56–70.
https://doi.org/10.1182/blood-2014-06-580340
Published: 2015
Journal Articles

NADPH oxidase controls phagosomal pH and antigen cross-presentation in human dendritic cells

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Adriana R. Mantegazza, Ariel Savina, Mónica Vermeulen, Laura Pérez, Jorge Geffner, Olivier Hermine, Sergio D. Rosenzweig, Florence Faure, Sebastián Amigorena
Journal: Blood
Blood (2008) 112 (12): 4712–4722.
https://doi.org/10.1182/blood-2008-01-134791
Published: 2008
Journal Articles

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

Free
Gulbu Uzel, Emilia Tng, Sergio D. Rosenzweig, Amy P. Hsu, Jacqueline M. Shaw, Mitchell E. Horwitz, Gilda F. Linton, Stacie M. Anderson, Martha R. Kirby, Jaõ B. Oliveira, Margaret R. Brown, Thomas A. Fleisher, S. K. Alex Law, Steven M. Holland
Journal: Blood
Blood (2008) 111 (1): 209–218.
https://doi.org/10.1182/blood-2007-04-082552
Published: 2008