Mana Momenilandi, Romain Lévy, Steicy Sobrino, Jingwei Li, Chantal Lagresle-Peyrou, Hossein Esmaeilzadeh, Antoine Fayand, Corentin Le Floc'h, Antoine Guérin, Erika Della Mina, Debra Shearer, Ottavia M Delmonte, Ahmad Yatim, Kevin Mulder, Mathieu Mancini, Darawan Rinchai, Adeline Denis, Anna-Lena Neehus, Karla Balogh, Sarah Brendle, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Yoann Seeleuthner, Caroline Deswarte, Boris Bessot, Cassandre Cremades, Marie Materna, Axel Cederholm, Masato Ogishi, Quentin Philippot, Omer Beganovic, Mania Ackermann, Margareta Wuyts, Taushif Khan, Sébastien Fouéré, Florian Herms, Johan Chanal, Boaz Palterer, Julie Bruneau, Thierry J Molina, Stéphanie Leclerc-Mercier, Jean-Luc Prétet, Leila Youssefian, Hassan Vahidnezhad, Nima Parvaneh, Kristl G Claeys, Rik Schrijvers, Marine Luka, Philippe Pérot, Jacques Fourgeaud, Céline Nourrisson, Philippe Poirier, Emmanuelle Jouanguy, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Luigi D Notarangelo, Neil Christensen, Nils Landegren, Laurent Abel, Nico Marr, Emmanuelle Six, David Langlais, Tim Waterboer, Florent Ginhoux, Cindy S Ma, Stuart G Tangye, Isabelle Meyts, Nico Lachmann, Jiafen Hu, Mohammad Shahrooei, Xavier Bossuyt, Jean-Laurent Casanova, Vivien Béziat
FMS-related tyrosine kinase 3 ligand (FLT3L), encoded by FLT3LG, is a hematopoietic factor essential for the development of natural killer (NK) cells, B cells, and dendritic cells (DCs) in mice. We describe three humans homozygous for a loss-of-function FLT3LG variant with a history of various recurrent infections, including severe cutaneous warts. The patients' bone marrow (BM) was hypoplastic, with low levels of hematopoietic progenitors, particularly myeloid and B cell precursors. Counts of B cells, monocytes, and DCs were low in the patients' blood, whereas the other blood subsets, including NK cells, were affected only moderately, if at all...
May 2, 2024: Cell