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Magdalena A. Walkiewicz
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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

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

Jahnavi Aluri, Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Magdalena A. Walkiewicz, Christopher D. Putnam, Marwan Shinawi, Nermina Saucier, Elise M. Rizzi, Michael T. Harmon, Molly P. Keppel, Michelle Ritter, Morgan Similuk, Elaine Kulm, Michael Joyce, Adriana A. de Jesus, Raphaela Goldbach-Mansky, Yi-Shan Lee, Marina Cella, Peggy L. Kendall, Mary C. Dinauer, Jeffrey J. Bednarski, Christina Bemrich-Stolz, Scott W. Canna, Shirley M. Abraham, Matthew M. Demczko, Jonathan Powell, Stacie M. Jones, Amy M. Scurlock, Suk See De Ravin, Jack J. Bleesing, James A. Connelly, V. Koneti Rao, Laura G. Schuettpelz, Megan A. Cooper
Journal: Blood
Blood (2021) 137 (18): 2450–2462.
https://doi.org/10.1182/blood.2020009620
Published: 2021
Includes: Supplemental data