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

Akalu, Yemsratch; Taft, Justin; Berger, Thomas; Rostásy, Kevin; Dafsari, Hormos; Schönrade, Helena; KASAP CÜCEOĞLU, MÜŞERREF; ÖZEN, SEZA; Faye, Albert; Melki, Isabelle; Dobroz, Imen; Boespflug-Tanguy, Odile; KIYKIM, AYÇA; Sahin, Sezgin; 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., ...Daha Fazla

Journal of Human Immunity, cilt.2, sa.2, 2026 (Scopus)

Yayın Türü: Makale / Kısa Makale
Cilt numarası: 2 Sayı: 2
Basım Tarihi: 2026
Doi Numarası: 10.70962/jhi.20250245
Dergi Adı: Journal of Human Immunity
Derginin Tarandığı İndeksler: Scopus
Hacettepe Üniversitesi Adresli: Evet

Özet

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.