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Phenotypic Variability of SOCS1 Haploinsufficiency.

作者信息

Hale Rebecca C, Owen Nichole, Yuan Bo, Chinn Ivan K

机构信息

Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.

Baylor College of Medicine, Baylor Genetics, Houston, TX, 77030, USA.

出版信息

J Clin Immunol. 2023 Jul;43(5):902-906. doi: 10.1007/s10875-023-01460-4. Epub 2023 Mar 9.

DOI:10.1007/s10875-023-01460-4
PMID:36890397
Abstract
摘要

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Front Immunol. 2024 Apr 22;15:1385190. doi: 10.3389/fimmu.2024.1385190. eCollection 2024.
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IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency.

本文引用的文献

1
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.SOCS1 杂合性不足导致儿科患者出现严重附着点炎、骨髓细胞减少和难治性血小板减少,并对 JAK 抑制有后续反应。
J Clin Immunol. 2022 Nov;42(8):1766-1777. doi: 10.1007/s10875-022-01346-x. Epub 2022 Aug 17.
2
One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.一个基因,多种表现:SOCS1 杂合不足导致多种免疫途径失调。
Front Immunol. 2021 Aug 5;12:680334. doi: 10.3389/fimmu.2021.680334. eCollection 2021.
3
IL4Rα 和 IL17A 阻断SOCS1 杂合不足所致自身炎症。
J Clin Immunol. 2023 Dec 29;44(1):36. doi: 10.1007/s10875-023-01635-z.
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
早发型自身免疫与 SOCS1 杂合性不足相关。
Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4.
4
Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1.SOCS1 部分功能缺失个体中的免疫失调和儿童多系统炎症综合征 (MIS-C)。
J Allergy Clin Immunol. 2020 Nov;146(5):1194-1200.e1. doi: 10.1016/j.jaci.2020.07.033. Epub 2020 Aug 25.
5
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.对一组散发原发性免疫缺陷病例进行全基因组测序。
Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6.
6
Hepatopulmonary Syndrome in Children: A 20-Year Review of Presenting Symptoms, Clinical Progression, and Transplant Outcome.儿童肝肺综合征:20 年临床表现、临床进展和移植结局回顾。
Liver Transpl. 2018 Sep;24(9):1271-1279. doi: 10.1002/lt.25296.