联合国发现单基因系统性红斑狼疮的新病因。

IF 3.2 4区医学 Q3 CELL BIOLOGY Immunology & Cell Biology Pub Date : 2024-07-09 DOI:10.1111/imcb.12807

Julia I Ellyard, Michael P Gantier

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引用次数: 0

摘要

UNC93B1 对于包括 TLR7 和 TLR8 在内的核酸感应 Toll 样受体 (TLR) 的稳定性和内体转运至关重要。TLR7 反应的增加与小鼠和人类的狼疮自身免疫有关。在最近的一篇文章中，Al-Azab 等人证明了 UNC93B1 的一个变体（p.V117L）在通过 TLR7/8 高反应性诱导患者和小鼠患上小儿系统性红斑狼疮中的作用。他们还强调了药物抑制白细胞介素-1 受体相关激酶 (IRAK) 1 和/或 4 在改善疾病方面的潜在作用。

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UNCovering new causes of monogenic systemic lupus erythematosus

UNC93B1 is essential for the stability and endosomal trafficking of nucleic-acid sensing Toll-like receptors (TLRs) including TLR7 and TLR8. Increased TLR7 responses are associated with lupus autoimmunity in both mice and humans. In a recent article, Al-Azab et al. demonstrate the role of a variant of UNC93B1 (p.V117L) in the induction of pediatric systemic lupus erythematosus in patients and in mice through TLR7/8 hyperresponsiveness. They also highlight a potential role for the pharmacological inhibition of interleukin-1 receptor–associated kinase (IRAK) 1 and/or 4 in ameliorating disease.

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来源期刊

Immunology & Cell Biology 医学-免疫学

CiteScore

7.50

自引率

2.50%

发文量

审稿时长

4-8 weeks

期刊介绍： The Australasian Society for Immunology Incorporated (ASI) was created by the amalgamation in 1991 of the Australian Society for Immunology, formed in 1970, and the New Zealand Society for Immunology, formed in 1975. The aim of the Society is to encourage and support the discipline of immunology in the Australasian region. It is a broadly based Society, embracing clinical and experimental, cellular and molecular immunology in humans and animals. The Society provides a network for the exchange of information and for collaboration within Australia, New Zealand and overseas. ASI members have been prominent in advancing biological and medical research worldwide. We seek to encourage the study of immunology in Australia and New Zealand and are active in introducing young scientists to the discipline.