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

Immunol ResSep 7, 2026 (epub)
Case ReportMedical GeneticsRheumatologyOpen access

Busra Seniz Demir, Sumeyra Ozdemir Cicek, Mohammad Ahmad Houran et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the 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.

Source

PubMed · PMID 42704422Free full text on PubMed Central

Published in Immunol Res. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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