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Neven, Bénédicte; Al Adba, Buthaina; Hully, Marie; Desguerre, Isabelle; Pressiat, Claire; Boddaert, Natalie; Duffy, Darragh; Rice, Gillian I; Seabra, Luis; Frémond, Marie-Louise; Blanche, Stéphane; Crow, Yanick J; Adang, Laura; Goldbach-Mansky, Raphaela; Vanderver, Adeline
The New England journal of medicine, 11/2020, Volume: 383, Issue: 22Journal Article
To the Editor: Some reports, 1-3 including that of Vanderver et al. (Sept. 3 issue), 4 have indicated the potential of Janus kinase 1 (JAK1) blockade in the treatment of type I interferonopathies. We describe here the onset of the Aicardi–Goutières syndrome, despite the use of ruxolitinib for 10 months, in a patient who had been presymptomatic. A 4-month-old male infant with biallelic RNASEH2B mutations was identified after an older sibling received a diagnosis of the Aicardi–Goutières syndrome. The infant’s development had been normal until that time, but he had markers that were suggestive of interferon-signaling activation (Fig. S1 in the Supplementary . . .
