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Jacob R. Bledsoe
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Journal Articles

Germline LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia and defective cytokinesis

Open Access
Thijs van Bergen, Dennis Bosch, Christine Bellanné-Chantelot, Roger Mulet-Lazaro, Jacob R. Bledsoe, Lanpeng Chen, Hans W.J. de Looper, Claire van Dijk, Mariëtte ter Borg, Eric Bindels, Remco Hoogenboezem, Onno Roovers, Patricia A Olofsen, Marije Bartels, Joris M. van Montfrans, Puck Breed, Elisabeth Salzer, Marloes G. Holierhoek, Brigittie Nelken, Blandine Beaupain, Mark Daniel Fleming, Akiko Shimamura, Marc H.G.P. Raaijmakers, Jean Donadieu, Peter E. Newburger, Ivo P. Touw, Anna M Aalbers
Journal: Blood Advances
Blood Adv bloodadvances.2025016507.
https://doi.org/10.1182/bloodadvances.2025016507
Published: 2025
Includes: Supplemental data
Journal Articles

A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm

Free
Katarina Zmajkovicova, Sumit Pawar, Svetlana O. Sharapova, Christoph B. Geier, Ivana Wiest, Chi Nguyen, Halenya Monticelli, Sabine Maier-Munsa, Kelly Chen, John W. Sleasman, Svetlana Aleshkevich, Ekaterina Polyakova, Inga Sakovich, Klaus Warnatz, Bodo Grimbacher, Michele Proietti, Neal Sondheimer, Boglarka Ujhazi, Sumai Gordon, Maryssa Ellison, Melis Yilmaz, Jolan E. Walter, Adriana Badarau, Arthur G. Taveras, Jadee L. Neff, Jacob R. Bledsoe, Teresa K. Tarrant
Journal: Blood Advances
Blood Adv (2024) 8 (14): 3754–3759.
https://doi.org/10.1182/bloodadvances.2023011875
Published: 2024
Includes: Multimedia, Supplemental data