Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

Bucciol G., Moens L., Ogishi M., Rinchai D., Matuozzo D., Momenilandi M., ...More

JOURNAL OF CLINICAL INVESTIGATION, vol.133, no.12, 2023 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 133 Issue: 12
  • Publication Date: 2023
  • Doi Number: 10.1172/jci168321
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, International Pharmaceutical Abstracts, Veterinary Science Database, Directory of Open Access Journals
  • Bursa Uludag University Affiliated: Yes


STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants viral infection or after LAV administration, which probably attested to unresolved viral infection in the absence of STAT2CD8+ memory T cells contributed to this inflammation. Several patients died from viral infection or heart failure during a show that AR complete STAT2 deficiency underlay severe viral diseases and substantially impacts survival.