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Monogenic lupus caused by mutations in DNASE1L3: A rare cause of systemic lupus erythematosus in children.

作者信息

Gezgin Yıldırım Deniz, Bakkaloğlu Sevcan A

机构信息

Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara, Turkey.

出版信息

Scand J Immunol. 2022 Jun;95(6):e13162. doi: 10.1111/sji.13162. Epub 2022 Mar 29.

DOI:10.1111/sji.13162
PMID:35302646
Abstract
摘要

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Mechanism and target treatment of primary immunodeficiency diseases with systemic lupus erythematosus-like phenotype.具有系统性红斑狼疮样表型的原发性免疫缺陷病的机制与靶向治疗
Pediatr Discov. 2024 May 27;2(3):e67. doi: 10.1002/pdi3.67. eCollection 2024 Sep.
2
Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis.在三个患有系统性红斑狼疮和低补体血症性荨麻疹性血管炎的阿联酋家庭中鉴定并对一种新型DNASE1L3变体（c.572A>G，p.Asn191Ser）进行功能表征。
Lupus Sci Med. 2025 Feb 13;12(1):e001477. doi: 10.1136/lupus-2024-001477.
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Double-negative B cells and DNASE1L3 colocalise with microbiota in gut-associated lymphoid tissue.
双阴性 B 细胞和 DNASE1L3 与肠道相关淋巴组织中的微生物群共定位。
Nat Commun. 2024 May 14;15(1):4051. doi: 10.1038/s41467-024-48267-4.