Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

Bucciol, Giorgia; Moens, Leen; Ogishi, Masato; Rinchai, Darawan; Matuozzo, Daniela; Momenilandi, Mana; Kerrouche, Nacim; Cale, Catherine; Treffeisen, Elsa; Al Salamah, Mohammad; Al-Saud, Bandar; Lachaux, Alain; Duclaux-Loras, Remi; Meignien, Marie; Bousfiha, Aziz; Benhsaien, Ibtihal; Shcherbina, Anna; Roppelt, Anna; COVID Human Genetic Effort, ŞEHİME; Gothe, Florian; Houhou-Fidouh, Nadhira; Hackett, Scott; Bartnikas, Lisa; Maciag, Michelle; Alosaimi, Mohammed; Chou, Janet; Mohammed, Reem; Freij, Bishara; Jouanguy, Emmanuelle; Zhang, Shen-Ping; Boisson-Dupuis, Stephanie; Beziat, Vivien; Zhang, Qian; Duncan, Christopher; Hambleton, Sophie; Casanova, Jean-Laurent; Meyts, Isabelle

doi:10.1172/jci168321

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

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

JOURNAL OF CLINICAL INVESTIGATION, cilt.133, sa.12, 2023 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 133 Sayı: 12
Basım Tarihi: 2023
Doi Numarası: 10.1172/jci168321
Dergi Adı: JOURNAL OF CLINICAL INVESTIGATION
Derginin Tarandığı İndeksler: 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 Uludağ Üniversitesi Adresli: Evet

Özet

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.