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Holm Uhlig
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Journal Articles

Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Grazia Fazio, Cristina Bugarin, Manuel Quadri, Stefano Rebellato, Clizia Chinello, Lisa Pagani, Federica Malighetti, Luis González Gutiérrez-Solana, Vanna Denti, Fatemeh Emam Mousavi, Miquell Raspall-Chaure, Martin-Nalda Andrea, Estibaliz Barredo, David Adams, O'Leary Melanie, Precilla D'Souza, Ellen Macnamara, Sergio Rosenzweig, Hye Sun Kuehn, Jennifer Stoddard, Heather C Mefford, Giorgia Mandrile, Lisa Pavinato, Alfredo Brusco, Patricia Valentina Velez Santamaria, Aurora Pujol, Vincent Michaud, Agathe Roubertie, Zoe Nelson, Margaret P Adam, Bernice Lo, Holm Uhlig, Claire G Salter, Emma Baple, Andrew H Crosby, Sanil Bhatia, Fulvio Magni, Giuseppe Paglia, Giovanni Cazzaniga, Rocco Piazza, Andrea Biondi, Matteo Barberis
Journal: Blood
Blood (2023) 142 (Supplement 1): 153.
https://doi.org/10.1182/blood-2023-185551
Published: 2023
Journal Articles

Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up

Clinical Trials & Observations
Jochen Kammermeier, Giovanna Lucchini, Sung-Yun Pai, Austen Worth, Dyanne Rampling, Persis Amrolia, Juliana Silva, Robert Chiesa, Kanchan Rao, Gabriele Noble-Jamieson, Marco Gasparetto, Drew Ellershaw, Holm Uhlig, Neil Sebire, Mamoun Elawad, Luigi Notarangelo, Neil Shah, Paul Veys
Journal: Blood
Blood (2016) 128 (9): 1306–1308.
https://doi.org/10.1182/blood-2016-01-696385
Published: 2016
Includes: Supplemental data
Journal Articles

Early and nonreversible decrease of CD161 ++ /MAIT cells in HIV infection

Cormac Cosgrove, James E. Ussher, Andri Rauch, Kathleen Gärtner, Ayako Kurioka, Michael H. Hühn, Krista Adelmann, Yu-Hoi Kang, Joannah R. Fergusson, Peter Simmonds, Philip Goulder, Ted H. Hansen, Julie Fox, Huldrych F. Günthard, Nina Khanna, Fiona Powrie, Alan Steel, Brian Gazzard, Rodney E. Phillips, John Frater, Holm Uhlig, Paul Klenerman
Journal: Blood
Blood (2013) 121 (6): 951–961.
https://doi.org/10.1182/blood-2012-06-436436
Published: 2013
Includes: Supplemental data