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Marita Bosticardo
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Journal Articles

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis

Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U. Laverty, Arttu Jolma, Rozita Razavi, Ally H.W. Yang, Mihai Albu, Liam Golding, Anna F. Lee, Ryan Tan, Phillip A. Richmond, Marita Bosticardo, Jonathan H. Rayment, Connie L. Yang, Kyla J. Hildebrand, Rae Brager, Michelle K. Demos, Yu-Lung Lau, Luigi D. Notarangelo, Timothy R. Hughes, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241174.
https://doi.org/10.1084/jem.20241174
Published: 20 May 2025
View article titled, A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis
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Includes: Supplementary data
Journal Articles

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency

Riccardo Castagnoli, Francesca Pala, Poorani Subramanian, Cihan Oguz, Benjamin Schwarz, Ai Ing Lim, Andrew S. Burns, Elena Fontana, Marita Bosticardo, Cristina Corsino, Angelina Angelova, Ottavia M. Delmonte, Heather Kenney, Deanna Riley, Grace Smith, Lisa Ott de Bruin, Vasileios Oikonomou, Lucas Dos Santos Dias, Danielle Fink, Eric Bohrnsen, Cole D. Kimzey, Gian Luigi Marseglia, Guisela Alva-Lozada, Jenna R.E. Bergerson, Ana Brett, Karlla W. Brigatti, Dimana Dimitrova, Cullen M. Dutmer, Alexandra F. Freeman, Hanadys Ale, Steven M. Holland, Francesco Licciardi, Srdjan Pasic, Laura E. Poskitt, David E. Potts, Joseph F. Dasso, Svetlana O. Sharapova, Kevin A. Strauss, Brant R. Ward, Melis Yilmaz, Douglas B. Kuhns, Michail S. Lionakis, Stephen R. Daley, Heidi H. Kong, Julia A. Segre, Anna Villa, Stefania Pittaluga, Jolan E. Walter, Ivan Vujkovic-Cvijin, Yasmine Belkaid, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241993.
https://doi.org/10.1084/jem.20241993
Published: 02 May 2025
View article titled, Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency
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Journal Articles

Rediscovering the human thymus through cutting-edge technologies

In Special Collection:
Autoimmunity 2024
Francesca Pala, Luigi D. Notarangelo, Marita Bosticardo
Journal: Journal of Experimental Medicine
Series: Thymus and T Cell Development Focus
J Exp Med (2024) 221 (10): e20230892.
https://doi.org/10.1084/jem.20230892
Published: 21 August 2024
View article titled, Rediscovering the human thymus through cutting-edge technologies
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Journal Articles

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J. Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E. Poulain, Alberto Martini, John Manis, Robert J. Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M. Puck, Juan Carlos Zúñiga-Pflücker, Leonard Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (3): 623–637.
https://doi.org/10.1084/jem.20161525
Published: 01 February 2017
View article titled, EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
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Includes: Supplementary data
Journal Articles

The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function

Michela Locci, Elena Draghici, Francesco Marangoni, Marita Bosticardo, Marco Catucci, Alessandro Aiuti, Caterina Cancrini, Laszlo Marodi, Teresa Espanol, Robbert G.M. Bredius, Adrian J. Thrasher, Ansgar Schulz, Jiri Litzman, Maria Grazia Roncarolo, Giulia Casorati, Paolo Dellabona, Anna Villa
Journal: Journal of Experimental Medicine
J Exp Med (2009) 206 (4): 735–742.
https://doi.org/10.1084/jem.20081773
Published: 23 March 2009
View article titled, The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function
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Includes: Supplementary data