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Updated: Sep 20, 2025

High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes
Published on: March 24, 2015
Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling
Nic Robertson1, Aakash Joshi2, Francesca Ritchie3
1MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Abstract:
Mutations in the non-coding RNA gene RNU4ATAC are associated with growth restriction and complications related to antibody deficiency. Here, we report that innate immune dysfunction is a previously unrecognised feature of this disorder. In particular, painful chilblain-like lesions are common in RNU4ATAC patients and are linked to dysregulated type I interferon signalling.
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