Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Patients with inherited CARMIL2 or CD28 deficiency have defective T cell CD28 signaling, but their immunological and clinical phenotypes remain largely unknown. We show that only one of three CARMIL2 isoforms is produced and functional across leukocyte subsets. Tested mutant CARMIL2 alleles from 89...

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Autores principales: Lévy, Romain, Gothe, Florian, Momenilandi, Mana, Magg, Thomas, Materna, Marie, Peters, Philipp, Raedler, Johannes, Philippot, Quentin, Rack-Hoch, Anita Lena, Langlais, David, Bourgey, Mathieu, Lanz, Anna-Lisa, Ogishi, Masato, Rosain, Jérémie, Martin, Emmanuel, Latour, Sylvain, Vladikine, Natasha, Distefano, Marco, Khan, Taushif, Rapaport, Franck, Schulz, Marian S., Holzer, Ursula, Fasth, Anders, Sogkas, Georgios, Speckmann, Carsten, Troilo, Arianna, Bigley, Venetia, Roppelt, Anna, Dinur-Schejter, Yael, Toker, Ori, Bronken Martinsen, Karen Helene, Sherkat, Roya, Somekh, Ido, Somech, Raz, Shouval, Dror S., Kühl, Jörn-Sven, Ip, Winnie, McDermott, Elizabeth M., Cliffe, Lucy, Ozen, Ahmet, Baris, Safa, Rangarajan, Hemalatha G., Jouanguy, Emmanuelle, Puel, Anne, Bustamante, Jacinta, Alyanakian, Marie-Alexandra, Fusaro, Mathieu, Wang, Yi, Kong, Xiao-Fei, Cobat, Aurélie, Boutboul, David, Castelle, Martin, Aguilar, Claire, Hermine, Olivier, Cheminant, Morgane, Suarez, Felipe, Yildiran, Alisan, Bousfiha, Aziz, Al-Mousa, Hamoud, Alsohime, Fahad, Cagdas, Deniz, Abraham, Roshini S., Knutsen, Alan P., Fevang, Borre, Bhattad, Sagar, Kiykim, Ayca, Erman, Baran, Arikoglu, Tugba, Unal, Ekrem, Kumar, Ashish, Geier, Christoph B., Baumann, Ulrich, Neven, Bénédicte, Rohlfs, Meino, Walz, Christoph, Abel, Laurent, Malissen, Bernard, Marr, Nico, Klein, Christoph, Casanova, Jean-Laurent, Hauck, Fabian, Béziat, Vivien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9754768/
https://www.ncbi.nlm.nih.gov/pubmed/36515678
http://dx.doi.org/10.1084/jem.20220275

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9754768/
https://www.ncbi.nlm.nih.gov/pubmed/36515678
http://dx.doi.org/10.1084/jem.20220275

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