Evidence map›Paper›PMID 41675198›Full record

ArticleJournal of human immunity2026

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

Yemsratch Akalu, Justin Taft, Thomas Berger, Kevin Rostásy, Hormos S Dafsari, Helena Schönrade, Müşerref Kasap Cüceoğlu, Seza Özen, Albert Faye, Isabelle Melki and 13 more

Abstract read
In one paragraph

Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. AFrontiers in immunology · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Yemsratch AkaluCenter for Genetic Errors of Immunity, Columbia University, New York, NY, USA.ORCID https://orcid.org/0000-0003-0829-7972
Justin TaftCenter for Genetic Errors of Immunity, Columbia University, New York, NY, USA.ORCID https://orcid.org/0009-0003-6343-8755
Thomas BergerDepartment of Pediatric Gastroenterology and Rheumatology, Children's Hospital Datteln, University Witten and Herdecke, Datteln, Germany.ORCID https://orcid.org/0009-0006-1216-0556
Kevin RostásyDepartment of Pediatric Neurology, Children's Hospital Datteln, University Witten and Herdecke, Datteln, Germany.ORCID https://orcid.org/0000-0002-2180-5321
Hormos S DafsariDepartment of Pediatrics, University of Cologne, Köln, Germany.ORCID https://orcid.org/0000-0003-3483-5009
Helena SchönradeDepartment of Pediatrics, University of Cologne, Köln, Germany.ORCID https://orcid.org/0009-0009-2925-2766
Müşerref Kasap CüceoğluDepartment of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.ORCID https://orcid.org/0000-0002-9957-8894
Seza ÖzenDepartment of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.ORCID https://orcid.org/0000-0003-2883-7868
Albert FayeDepartment of General Pediatrics, Pediatric Infectious Disease and Internal Medicine, Robert Debré University Hospital, Assistance Publique-Hôpitaux de Université Paris Cité Paris, Paris, France.ORCID https://orcid.org/0000-0003-4708-6086
Isabelle MelkiDepartment of General Pediatrics, Paediatric Rheumatology Unit, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, FHU INFLAMME, Paris, France.ORCID https://orcid.org/0000-0002-8057-333X
Imen DobrozDepartment of Child Neurology, LeukoFrance, Assistance Publique-Hôpitaux de Paris and UMR1141 Université Paris Cité-INSERM, Robert Debré University Hospital, Paris, France.ORCID https://orcid.org/0000-0003-3299-1497
Odile Boespflug-TanguyDepartment of Child Neurology, LeukoFrance, Assistance Publique-Hôpitaux de Paris and UMR1141 Université Paris Cité-INSERM, Robert Debré University Hospital, Paris, France.ORCID https://orcid.org/0000-0003-2389-1232
Ayça KiykimDivision of Immunology and Allergy, Department of Pediatrics, Istanbul University- Cerrahpasa, Istanbul, Turkey.ORCID https://orcid.org/0000-0001-5821-3963
Sezgin SahinDepartment of Pediatric Rheumatology, Istanbul University-Cerrahpasa, Istanbul, Turkey.ORCID https://orcid.org/0000-0002-5365-3457
Eda Tahir TuranliDepartment of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Institute of Natural and Applied Sciences, Acibadem University, Istanbul, Turkey.ORCID https://orcid.org/0000-0002-0789-0398
Ümmüşen Kaya AkcaDepartment of Pediatric Rheumatology, Akdeniz University, Antalya, Turkey.ORCID https://orcid.org/0000-0002-0426-9432
Jan A M van LaarDepartments of Internal Medicine and Immunology, Erasmus University Medical Center, Rotterdam, Netherlands.ORCID https://orcid.org/0000-0002-8885-4929
Philomine A van PeltDepartment of Rheumatology, Erasmus University Medical Center, Rotterdam, Netherlands.ORCID https://orcid.org/0000-0003-1687-4434
Iris H I M HollinkDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.ORCID https://orcid.org/0009-0007-8840-2184
Pallavi Pimpale ChavanDepartment of Pediatric Rheumatology, SRCC Children's Hospital, Mumbai, India.ORCID https://orcid.org/0000-0002-5124-6559
Raju KhubchandaniDepartment of Pediatric Rheumatology, SRCC Children's Hospital, Mumbai, India.ORCID https://orcid.org/0000-0003-0294-119X
Ivona AksentijevichInflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA.ORCID https://orcid.org/0000-0002-6564-7214
Dusan BogunovicCenter for Genetic Errors of Immunity, Columbia University, New York, NY, USA.ORCID https://orcid.org/0000-0002-9277-3232

Funding

Somatic variants as drivers of genetic errors of immunityP01AI186771 · NIAID · WASHINGTON UNIVERSITY · PI Dusan Bogunovic, Megan Anne Cooper · 2025 to 2026
$7.5M
New York Regional Inborn Errors of Immunity Resource Initiative League (NY-ROYAL)R24AI167802 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Dusan Bogunovic, Joshua D. Milner · 2023 to 2026
$3.3M
Inborn Errors of Immunity Leading to Autoinflammatory SyndromesR01AI148963 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BOGUNOVIC, DUSAN · 2020 to 2024
$2.5M
NIAID NIH HHS P01 AI186771NIAID NIH HHS R01 AI148963NIAID NIH HHS R24 AI167802
6 · The paper itself

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.

Identifiers

PMID41675198
PMCPMC12888840

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.