RNU4ATAC基因的突变与冻疮样病变及I型干扰素信号增强相关。

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.

作者信息

Robertson Nic, Joshi Aakash, Ritchie Francesca, Schim van der Loeff Ina, Royan David, Duker Angela L, Rice Gillian I, Bober Michael B, Mansour Sahar, Campbell David I, Brennan Mary, Brown Lindsay, Jones Laura, Williams Eleri, Jackson Andrew P, Crow Yanick J

机构信息

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

South West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK.

出版信息

Eur J Immunol. 2025 May;55(5):e202451518. doi: 10.1002/eji.202451518.

DOI:10.1002/eji.202451518

PMID:40415209

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.

摘要

非编码RNA基因RNU4ATAC的突变与生长受限及抗体缺陷相关并发症有关。在此，我们报告先天性免疫功能障碍是该疾病此前未被认识到的一个特征。特别是，冻疮样疼痛性皮损在RNU4ATAC患者中很常见，且与I型干扰素信号失调有关。