Evidence map›Paper›PMID 42704422›Full record

ArticleImmunologic research2026

Clinical and immunological characterization of a child with a homozygous TBK1 kinase-domain truncation.

Busra Seniz Demir, Sumeyra Ozdemir Cicek, Mohammad Ahmad Houran, Zehra Busra Azizoglu, Mine Asan, Hasan Bas, Benhur Sirvan Cetin, Hakan Gumus, Serife Erdem, Halit Canatan and 4 more

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In one paragraph

Article in Immunologic research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

14 authors.

Busra Seniz DemirDepartment of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.ORCID http://orcid.org/0000-0002-2047-2967
Sumeyra Ozdemir CicekDepartment of Pediatrics, Division of Pediatric RheumatologyGevher Nesibe Genome and Stem Cell Research Center, Molecular Biology and Genetics, Erciyes University, Kayseri, 38039, Türkiye.ORCID http://orcid.org/0000-0002-3290-4413
Mohammad Ahmad HouranDepartment of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.ORCID http://orcid.org/0009-0000-8287-7073
Zehra Busra AzizogluDepartment of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Mine AsanGENKOK Genome and Stem Cell Research Centre, Erciyes University, Kayseri, Türkiye.ORCID http://orcid.org/0009-0005-3532-3277
Hasan BasIntergen Genetics and Rare Diseases Diagnosis Center, Ankara, Türkiye.ORCID http://orcid.org/0000-0003-3475-564X
Benhur Sirvan CetinDepartment of Pediatrics, Faculty of Medicine, Pediatric Infectious Diseases Unit, Erciyes University, 38030, Kayseri, Turkey.ORCID http://orcid.org/0000-0002-8470-4907
Hakan GumusDepartment of Pediatrics, Faculty of Medicine, Division of Pediatric Neurology, Erciyes University, Kayseri, Türkiye.ORCID http://orcid.org/0000-0001-5896-074X
Serife ErdemDepartment of Immunology, Faculty of Medicine, Kirsehir Ahi Evran University, Kirsehir, Türkiye.
Halit CanatanDepartment of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.ORCID http://orcid.org/0000-0002-0978-8311
Ekrem UnalDepartment of Nursing, Faculty of Health Sciences, Hasan Kalyoncu University, Gaziantep, Türkiye.ORCID http://orcid.org/0000-0002-2691-4826
Elena Wy HsiehDepartment of Pediatrics & Internal Medicine, Division of Allergy and Immunology, UT Southwestern Medical Center, Dallas, TX, USA.ORCID http://orcid.org/0000-0003-3969-6597
Aysenur Pac KısaarslanGENKOK Genome and Stem Cell Research Centre, Erciyes University, Kayseri, Türkiye. Aysenurkisaarslan@hotmail.com.ORCID http://orcid.org/0000-0002-1800-9922
Ahmet EkenDepartment of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye. ahmet.eken@cuanschutz.edu.ORCID http://orcid.org/0000-0002-5816-0686

Funding

Erciyes University Research Council (BAP Grants) TSG-2023-10935 and TYG-2023-13110
6 · The paper itself

Abstract

TBK1 is a serine-tyrosine kinase protein that transmits signals from pattern recognition receptors to the NF-κB pathway leading to production of Type 1 Interferons. Mutations in this protein have been associated with arthritis, vasculitis, herpes simplex encephalitis and amyotrophic lateral sclerosis. In the current study, we characterized the functional consequences of a TBK1-variant bearing a truncation in exon 4 and 5 in a patient with poly arthritis resembling juvenile idiopathic arthritis and necrotizing encephalitis. The truncation was associated with reduced TBK1 protein abundance and altered phosphorylation. The variant was associated with increased basal/and or Poly-I: C induced IL-6, TNFα, IL-1β and IL-18 and type 1 Interferon ex vivo. Our findings expand the phenotypic spectrum of TBK1 loss-of-function variants and may provide insight into the management of immune dysregulation in affected patients.

Indexed as

Arthritis, JuvenileEncephalitisProtein Serine-Threonine KinasesChildCytokinesHomozygoteHumansMutationPhosphorylationCytokinesProtein Serine-Threonine KinasesTBK1 protein, humanAutoinflammationNecrotizing encephalitisPolyarthritisTBK1

Identifiers

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.