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Article

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

Immunologic research - 7 Sept 2026

Demir Busra Seniz, Cicek Sumeyra Ozdemir, Houran Mohammad Ahmad, Azizoglu Zehra Busra, Asan Mine, Bas Hasan, Cetin Benhur Sirvan, Gumus Hakan, Erdem Serife, Canatan Halit, Unal Ekrem, Hsieh Elena Wy, Kısaarslan Aysenur Pac, Eken Ahmet

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Child
Humans
Arthritis, Juvenile
Cytokines
Encephalitis
Homozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Phosphorylation

Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 42704422
DOI: 10.1007/s12026-026-09838-3

Genes

TBK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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