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Article 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104551 | PMC |
| http://dx.doi.org/10.1002/eji.202451518 | DOI Listing |
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