Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

• Published in: The Journal of clinical investigation Vol. 133; no. 12; pp. 1 - 18
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Ann Arbor American Society for Clinical Investigation 01.06.2023
• Subjects: Biomedical research; CD8 antigen; Cerebrospinal fluid; Children; Congestive heart failure; COVID-19; COVID-19 vaccines; Encephalitis; Hearing loss; Herpes simplex; Herpes viruses; Immunological memory; Infections; Inflammation; Influenza; Kawasaki disease; Leukocytes (neutrophilic); Lymphocytes T; Measles; Memory cells; Meningitis; Monocytes; Mumps; Patients; Pneumonia; Rubella; Stat2 protein; Suffering; Transcriptomics; Viral diseases; Viral infections; United States > US

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-stimul...