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Journal Articles

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

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 Ghei Lawrence, Kathleen E. Sullivan, Samuel Yoon, Suzanna Rachimi, Nurcicek Padem, Erin Conboy, Maja Stojanovic, Gordana Petrovic, Srdjan Pasic, Joseph A. Church, Ronald M. Ferdman, Fabio Candotti, Tiphaine Arlabosse, Katerina Theodoropoulou, Cullen M. Dutmer, László Maródi, Gabriella Szücs, Arnon Broides, Amit Nahum, Jacov Levy, Kaisa Maria Kettunen, Ravindra Daddali, Ravi, Mikko R J Seppänen, Markku Vänttinen, Timi Martelius, Juha Grönholm, Matilde Peri, Chiara Azzari, Silvia Ricci, Samar Ojaimi, Emily SJ 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 blood.2024026683.
https://doi.org/10.1182/blood.2024026683
Published: 2025
Includes: Supplemental data
Journal Articles

Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort

Clinical Trials & Observations
Baruch Wolach, Ronit Gavrieli, Ofir Wolach, Pazit Salamon, Martin de Boer, Karin van Leeuwen, Omar Abuzaitoun, Arnon Broides, Giora Gottesman, Galia Grisaru-Soen, David Hagin, Nufar Marcus, Menachem Rottem, Yechiel Schlesinger, Tali Stauber, Polina Stepensky, Yael Dinur-Schejter, Tal Zeeli, Suheir Hanna, Amos Etzioni, Shirly Frizinsky, Raz Somech, Dirk Roos, Idit Lachover-Roth
Journal: Blood
Blood (2024) 144 (12): 1300–1313.
https://doi.org/10.1182/blood.2023022590
Published: 2024
Includes: Supplemental data
Journal Articles

Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling

Ruth Shiloh, Ruth Lubin, Odeya David, Ifat Geron, Elimelech Okon, Idit Hazan, Marketa Zaliova, Gil Amarilyo, Yehudit Birger, Yael Borovitz, Dafna Brik, Arnon Broides, Sarit Cohen-Kedar, Liora Harel, Eyal Kristal, Daria Kozlova, Galina Ling, Mika Shapira Rootman, Noa Shefer Averbuch, Shiri Spielman, Jan Trka, Shai Izraeli, Simon Yona, Sarah Elitzur
Journal: Blood
Blood (2023) 142 (20): 1740–1751.
https://doi.org/10.1182/blood.2023020714
Published: 2023
Includes: Supplemental data