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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

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Immacolata Brigida, Matteo Zoccolillo, Maria Pia Cicalese, Laurène Pfajfer, Federica Barzaghi, Serena Scala, Carmen Oleaga-Quintas, Jesus A. Álvarez-Álvarez, Lucia Sereni, Stefania Giannelli, Claudia Sartirana, Francesca Dionisio, Luca Pavesi, Marta Benavides-Nieto, Luca Basso-Ricci, Paola Capasso, Benedetta Mazzi, Jeremie Rosain, Nufar Marcus, Yu Nee Lee, Raz Somech, Massimo Degano, Giuseppe Raiola, Roberta Caorsi, Paolo Picco, Marcela Moncada Velez, Joelle Khourieh, Andrés Augusto Arias, Aziz Bousfiha, Thomas Issekutz, Andrew Issekutz, Bertrand Boisson, Kerry Dobbs, Anna Villa, Angelo Lombardo, Benedicte Neven, Despina Moshous, Jean-Laurent Casanova, José Luis Franco, Luigi D. Notarangelo, Cristina Scielzo, Stefano Volpi, Loïc Dupré, Jacinta Bustamante, Marco Gattorno, Alessandro Aiuti
Journal: Blood
Blood (2018) 132 (22): 2362–2374.
https://doi.org/10.1182/blood-2018-07-863431
Published: 2018
Includes: Supplemental data