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pro vyhledávání: '"Reem W. Mohammed"'
Autor:
Giorgia Bucciol, Leen Moens, Masato Ogishi, Darawan Rinchai, Daniela Matuozzo, Mana Momenilandi, Nacim Kerrouche, Catherine M. Cale, Elsa R. Treffeisen, Mohammad Al Salamah, Bandar K. Al-Saud, Alain Lachaux, Remi Duclaux-Loras, Marie Meignien, Aziz Bousfiha, Ibtihal Benhsaien, Anna Shcherbina, Anna Roppelt, COVID Human Genetic Effort, Florian Gothe, Nadhira Houhou-Fidouh, Scott J. Hackett, Lisa M. Bartnikas, Michelle C. Maciag, Mohammed F. Alosaimi, Janet Chou, Reem W. Mohammed, Bishara J. Freij, Emmanuelle Jouanguy, Shen-Ying Zhang, Stephanie Boisson-Dupuis, Vivien Béziat, Qian Zhang, Christopher J.A. Duncan, Sophie Hambleton, Jean-Laurent Casanova, Isabelle Meyts
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)
STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients’ ce
Externí odkaz:
https://doaj.org/article/93721eaae57f4e8c9405aeeff959098f
Publikováno v:
Journal of Clinical Immunology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa7fdaa229b4802d1b8d3b9996bf44bc
https://doi.org/10.1007/s10875-023-01478-8
https://doi.org/10.1007/s10875-023-01478-8