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

**Authors:** Yemsratch 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, Ayça Kiykim, Sezgin Sahin, Eda Tahir Turanli, Ümmüşen Kaya Akca, Jan A.M. van Laar, Philomine A. van Pelt, Iris H.I.M. Hollink, Pallavi Pimpale Chavan, Raju Khubchandani, Ivona Aksentijevich, Dusan Bogunovic

PMC · DOI: 10.70962/jhi.20250245 · Journal of Human Immunity · 2026-02-10

## TL;DR

This study shows that TBK1 deficiency in humans causes both autoinflammation and severe viral encephalitis, highlighting the need for antiviral monitoring.

## Contribution

The study expands the known clinical spectrum of TBK1 deficiency to include viral encephalitis.

## Key findings

- TBK1 deficiency is associated with severe viral encephalitis.
- Patients with TBK1 deficiency experience both autoinflammation and impaired antiviral defense.
- Long-term follow-up reveals the dual clinical impact of TBK1 deficiency.

## 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.

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.

## Linked entities

- **Genes:** TBK1 (TANK binding kinase 1) [NCBI Gene 29110]
- **Diseases:** viral encephalitis (MONDO:0006009)

## Full-text entities

- **Diseases:** TBK1 deficiency (MESH:D007153), viral encephalitis (MESH:D018792), autoinflammation (MESH:D056660)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

3 references — full list in the complete paper: https://tomesphere.com/paper/PMC12888840/full.md

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Source: https://tomesphere.com/paper/PMC12888840