STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapyJAK inhibitor therapy in STAT2 R148 deficiency

Patients with STAT2 p.R148Q variant present with life-threatening neuroinflammation, respiratory failure, and high mortality rate. Early genetic recognition and treatment with high-dose JAK inhibitors may improve outcomes in this devastating but potentially treatable interferonopathy.

Detalhes bibliográficos

Principais autores:	Nima Parvaneh, Rasol Molatefi, Conor Gruber, Sajjad Biglari, Leila Moradi, Yoann Seeleuthner, Fatima Ailal, Ahmed Aziz Bousfiha, Neda Pak, Camille Soudée, Jean-Laurent Casanova, Jérémie Rosain, Dusan Bogunovic, Mohammad Reza Fazlollahi, Mohammad Shahrooei, Jacinta Bustamante
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Rockefeller University Press 2026-05-01
coleção:	Journal of Human Immunity
Acesso em linha:	https://rupress.org/jhi/article-pdf/doi/10.70962/jhi.20260001/2035107/jhi_20260001.pdf
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