Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

Akalu, Yemsratch; Taft, Justin; Berger, Thomas; Rostásy, Kevin; Dafsari, Hormos; Schönrade, Helena; Cüceoğlu, Müşerref; ÖZEN, SEZA; Faye, Albert; Melki, Isabelle; Dobroz, Imen; Boespflug-Tanguy, Odile; KIYKIM, AYÇA; Sahin, SEZGİN; TAHİR TURANLI, EDA; KAYA AKCA, ÜMMÜŞEN; van Laar, Jan; van Pelt, Philomine; Hollink, Iris; Chavan, Pallavi; Khubchandani, Raju; Aksentijevich, Ivona; Bogunovic, Dusan

doi:10.70962/jhi.20250245

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

Akalu Y., Taft J., Berger T., Rostásy K., Dafsari H. S., Schönrade H., ...More

Journal of Human Immunity, vol.2, no.2, 2026 (Scopus)

Publication Type: Article / Letter
Volume: 2 Issue: 2
Publication Date: 2026
Doi Number: 10.70962/jhi.20250245
Journal Name: Journal of Human Immunity
Journal Indexes: Scopus
Istanbul University-Cerrahpasa Affiliated: Yes

Abstract

New and long-term follow-up cases of human TBK1 deficiency reveal that patients are vulnerable to severe viral encephalitis in addition to systemic autoinflammation. Findings underscore the dual nature of TBK1 deficiency in combining autoinflammatory disease with impaired antiviral defense.