Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

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’ cells displayed impaired expression of IFN-stimulated...

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Detalles Bibliográficos
Autores principales: Bucciol, Giorgia, Moens, Leen, Ogishi, Masato, Rinchai, Darawan, Matuozzo, Daniela, Momenilandi, Mana, Kerrouche, Nacim, Cale, Catherine M., Treffeisen, Elsa R., Al Salamah, Mohammad, Al-Saud, Bandar K., Lachaux, Alain, Duclaux-Loras, Remi, Meignien, Marie, Bousfiha, Aziz, Benhsaien, Ibtihal, Shcherbina, Anna, Roppelt, Anna, Gothe, Florian, Houhou-Fidouh, Nadhira, Hackett, Scott J., Bartnikas, Lisa M., Maciag, Michelle C., Alosaimi, Mohammed F., Chou, Janet, Mohammed, Reem W., Freij, Bishara J., Jouanguy, Emmanuelle, Zhang, Shen-Ying, Boisson-Dupuis, Stephanie, Béziat, Vivien, Zhang, Qian, Duncan, Christopher J.A., Hambleton, Sophie, Casanova, Jean-Laurent, Meyts, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266780/
https://www.ncbi.nlm.nih.gov/pubmed/36976641
http://dx.doi.org/10.1172/JCI168321

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266780/
https://www.ncbi.nlm.nih.gov/pubmed/36976641
http://dx.doi.org/10.1172/JCI168321

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