Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017

by Cristiane de Jesus Nunes-Santos, Cristiane de Jesus Nunes-Santos, Sergio D. Rosenzweig
Published 2018-06-01

Ikaros-Associated Diseases: From Mice to Humans and Back Again

by Brigette Boast, Brigette Boast, Cristiane de Jesus Nunes-Santos, Hye Sun Kuehn, Sergio D. Rosenzweig
Published 2021-07-01

Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects

by Rekha D. Jhamnani, Cristiane J. Nunes-Santos, Cristiane J. Nunes-Santos, Jenna Bergerson, Sergio D. Rosenzweig
Published 2018-09-01

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient [version 2; peer review: 3 approved]

by David H. McDermott, Lauren E. Heusinkveld, Wadih M. Zein, H. Nida Sen, Martha M. Marquesen, Mark Parta, Sergio D. Rosenzweig, Gary A. Fahle, Michael D. Keller, Henry E. Wiley, Philip M. Murphy
Published 2019-07-01

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient [version 1; peer review: 2 approved]

by David H. McDermott, Lauren E. Heusinkveld, Wadih M. Zein, H. Nida Sen, Martha M. Marquesen, Mark Parta, Sergio D. Rosenzweig, Gary A. Fahle, Michael D. Keller, Henry E. Wiley, Philip M. Murphy
Published 2019-01-01

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

by Hirotsugu Oda, David B. Beck, Hye Sun Kuehn, Natalia Sampaio Moura, Patrycja Hoffmann, Maria Ibarra, Jennifer Stoddard, Wanxia Li Tsai, Gustavo Gutierrez-Cruz, Massimo Gadina, Sergio D. Rosenzweig, Daniel L. Kastner, Luigi D. Notarangelo, Ivona Aksentijevich
Published 2019-03-01

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

by Urszula Cytlak, Anastasia Resteu, Delfien Bogaert, Hye Sun Kuehn, Thomas Altmann, Andrew Gennery, Graham Jackson, Attila Kumanovics, Karl V. Voelkerding, Seraina Prader, Melissa Dullaers, Janine Reichenbach, Harry Hill, Filomeen Haerynck, Sergio D. Rosenzweig, Matthew Collin, Venetia Bigley
Published 2018-03-01

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

by Ofer Zimmerman, Peter Olbrich, Peter Olbrich, Alexandra F. Freeman, Lindsey B. Rosen, Gulbu Uzel, Christa S. Zerbe, Sergio D. Rosenzweig, Hye Sun Kuehn, Kevin L. Holmes, David Stephany, Li Ding, Elizabeth P. Sampaio, Amy P. Hsu, Steven M. Holland
Published 2019-07-01

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

by Delfien J. Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P. Leroy, Julie E. Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N. Lambrecht, Frans De Baets, Sergio D. Rosenzweig, Elfride De Baere, Filomeen Haerynck
Published 2017-06-01

SARS-CoV-2 Spike Protein-Directed Monoclonal Antibodies May Ameliorate COVID-19 Complications in APECED Patients

by Elise M. N. Ferré, Monica M. Schmitt, Sebastian Ochoa, Lindsey B. Rosen, Elana R. Shaw, Peter D. Burbelo, Jennifer L. Stoddard, Shakuntala Rampertaap, Tom DiMaggio, Jenna R. E. Bergerson, Sergio D. Rosenzweig, Luigi D. Notarangelo, Steven M. Holland, Michail S. Lionakis
Published 2021-08-01

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in...

by Djuro Karanovic, Ian C. Michelow, Anthony R. Hayward, Suk See DeRavin, Ottavia M. Delmonte, Michael E. Grigg, Adam Kerry Dobbs, Julie E. Niemela, Jennifer Stoddard, Zaid Alhinai, Natasha Rybak, Nancy Hernandez, Stefania Pittaluga, Sergio D. Rosenzweig, Gulbu Uzel, Luigi D. Notarangelo
Published 2019-02-01

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India

by Jahnavi Aluri, Mukesh Desai, Maya Gupta, Aparna Dalvi, Antony Terance, Sergio D. Rosenzweig, Jennifer L. Stoddard, Julie E. Niemela, Vasundhara Tamankar, Snehal Mhatre, Umair Bargir, Manasi Kulkarni, Nitin Shah, Amita Aggarwal, Harsha Prasada Lashkari, Vidya Krishna, Geeta Govindaraj, Manas Kalra, Manisha Madkaikar
Published 2019-02-01

Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension

by Ohad Etzion, Varun Takyar, Victor Novack, Ahmed M. Gharib, Raissa Canales, Akeem Adebogun, Eric Matsumoto, Jason L. Eccleston, David E. Kleiner, Sergio D. Rosenzweig, Meral Gunay‐Aygun, Gulbu Uzel, Ivan Fuss, Richard Childs, Steven M. Holland, Elliot B. Levy, T. Jake Liang, Theo Heller, Christopher Koh
Published 2018-08-01

Tissue specific diversification, virulence and immune response to Mycobacterium bovis BCG in a patient with an IFN-γ R1 deficiency

by Cecilia B. Korol, Shamira J. Shallom, Kriti Arora, Helena I. Boshoff, Alexandra F. Freeman, Alejandra King, Sonia Agrawal, Sean C. Daugherty, Timothy Jancel, Juraj Kabat, Sundar Ganesan, Marina N. Torrero, Elizabeth P. Sampaio, Clifton Barry, Steve M Holland, Hervé Tettelin, Sergio D Rosenzweig, Adrian M. Zelazny
Published 2020-01-01

CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System.

by Rebecca A Drummond, Amanda L Collar, Muthulekha Swamydas, Carlos A Rodriguez, Jean K Lim, Laura M Mendez, Danielle L Fink, Amy P Hsu, Bing Zhai, Hatice Karauzum, Constantinos M Mikelis, Stacey R Rose, Elise M N Ferre, Lynne Yockey, Kimberly Lemberg, Hye Sun Kuehn, Sergio D Rosenzweig, Xin Lin, Prashant Chittiboina, Sandip K Datta, Thomas H Belhorn, Eric T Weimer, Michelle L Hernandez, Tobias M Hohl, Douglas B Kuhns, Michail S Lionakis
Published 2015-12-01

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

by Pooja Purswani, Cristina Adelia Meehan, Hye Sun Kuehn, Yenhui Chang, Joseph F. Dasso, Joseph F. Dasso, Anna K. Meyer, Boglarka Ujhazi, Krisztian Csomos, David Lindsay, Taylor Alberdi, Sonia Joychan, Jessica Trotter, Carla Duff, Maryssa Ellison, Jack Bleesing, Attila Kumanovics, Attila Kumanovics, Anne M. Comeau, Jaime E. Hale, Luigi D. Notarangelo, Troy R. Torgersen, Hans D. Ochs, Panida Sriaroon, Panida Sriaroon, Benjamin Oshrine, Aleksandra Petrovic, Sergio D. Rosenzweig, Jennifer W. Leiding, Jennifer W. Leiding, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter
Published 2019-04-01