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

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Authors: Yemsratch T. Akalu, Justin Taft, Thomas Berger, Kevin Rostásy, Hormos S. Dafsari, Helena Schönrade, Müşerref Kasap Cüceoğlu, Seza Özen, Albert Faye, Isabelle Melki, Imen Dobroz, Odile Boespflug‐Tanguy
+11 more Ayca Kiykim, Sezgin Sahin, Eda Tahir Turanli, Ümmüşen Kaya Akça, Jan A. M. van Laar, Philomine A van Pelt, Iris H.I.M. Hollink, Pallavi Pimpale Chavan, Raju Khubchandani, Ivona Aksentijevich, Dusan Bogunovic
Cited by: 2
References: 3

Abstract

Akalu et al. report new and long-term follow-up cases of human TBK1 deficiency, revealing that, beyond systemic autoinflammation, affected individuals are also vulnerable to severe viral encephalitis. Their findings highlight the dual nature of TBK1 deficiency-combining autoinflammatory disease with impaired antiviral defense-and emphasize the need for antiviral vigilance in care.

Fields of Study & Subjects

Immunodeficiency and Autoimmune Disorders interferon and immune responses Ubiquitin and proteasome pathways

Publication details

Journal / source
Journal of Human Immunity
Publisher
Rockefeller University Press
Volume
2
Issue
2
Pages
e20250245–e20250245
Publication date
17 January 2026
Language
EN