Article
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
The Journal of clinical investigation - 15 Jun 2023
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 Ja, Hambleton Sophie, Casanova Jean-Laurent, Meyts Isabelle
Abstract excerpt
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 genes and impaired control of in vitro viral infections. Clinical manifestations from early childhood onward...
Topics
- Humans
- Child, Preschool
- COVID-19
- Virus Diseases
- Influenza, Human
- Alleles
- Encephalitis, Herpes Simplex