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Reply to 'Inborn errors of immunity and AAV: a complex picture'.

作者信息

Gül Ahmet, Aksentijevich Ivona, Brogan Paul, Gattorno Marco, Grayson Peter C, Ozen Seza

机构信息

Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Inflammatory Disease Section, National Human Genome Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

Nat Rev Rheumatol. 2025 Sep 9. doi: 10.1038/s41584-025-01298-7.

DOI:10.1038/s41584-025-01298-7
PMID:40926085
Abstract
摘要

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本文引用的文献

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Nat Rev Rheumatol. 2025 May 14. doi: 10.1038/s41584-025-01250-9.
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A deep dive into monogenic lupus: insights on DNASE1L3 mutation.深入探究单基因狼疮：对DNASE1L3突变的见解。
Rheumatology (Oxford). 2025 Jul 1;64(7):4331-4334. doi: 10.1093/rheumatology/keae679.
3
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
遗传性 C1q 缺陷与 1 型干扰素通路激活和中枢神经系统炎症高风险相关。
J Clin Immunol. 2024 Aug 28;44(8):185. doi: 10.1007/s10875-024-01788-5.
4
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.PIK3CD 突变导致的活化磷酯酰肌醇 3-激酶 δ 综合征：扩展表型。
Pediatr Rheumatol Online J. 2024 Jan 29;22(1):24. doi: 10.1186/s12969-024-00955-7.
5
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.罕见和预测的致病基因变异对儿童期狼疮的贡献：对英国和法国队列的大型基因panel分析
Lancet Rheumatol. 2020 Feb;2(2):e99-e109. doi: 10.1016/S2665-9913(19)30142-0. Epub 2020 Jan 13.
6
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.DNASE1L3缺陷、新表型及短暂性I型干扰素信号传导的证据。
J Clin Immunol. 2022 Aug;42(6):1310-1320. doi: 10.1007/s10875-022-01287-5. Epub 2022 Jun 7.
7
Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report.活化磷酸肌醇 3-激酶 δ 综合征误诊为抗中性粒细胞胞质抗体相关性血管炎：一例报告。
J Int Med Res. 2021 May;49(5):3000605211013222. doi: 10.1177/03000605211013222.
8
Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency.
Arch Neurol. 2007 May;64(5):731-3. doi: 10.1001/archneur.64.5.731.