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Treatment of an HLH-mimic disease based on HAVCR2 variants with absent TIM-3 expression.

作者信息

Tromp Samantha A M, Gillissen Marijn A, Bernelot Moens Sophie J, van Leeuwen Ester M M, Jansen Machiel H, Koens Lianne, Rutten Caroline E, Kuijpers Taco W

机构信息

Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital.

Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity.

出版信息

Blood Adv. 2022 Aug 9;6(15):4501-4505. doi: 10.1182/bloodadvances.2022007450.

DOI:10.1182/bloodadvances.2022007450
PMID:35588499
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9636311/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccf1/9636311/435145bdd779/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccf1/9636311/1d78dc25cd10/grabsf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccf1/9636311/c6753a1f5542/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccf1/9636311/435145bdd779/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccf1/9636311/1d78dc25cd10/grabsf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccf1/9636311/c6753a1f5542/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccf1/9636311/435145bdd779/gr2.jpg

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National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.基于下一代测序的原发性免疫缺陷症诊断的全国性外部质量评估。
Eur J Hum Genet. 2021 Jan;29(1):20-28. doi: 10.1038/s41431-020-0702-0. Epub 2020 Jul 30.
2
Hemophagocytic lymphohistiocytosis: An update on pathogenesis, diagnosis, and therapy.噬血细胞性淋巴组织细胞增生症：发病机制、诊断和治疗的最新进展。
Best Pract Res Clin Rheumatol. 2020 Aug;34(4):101515. doi: 10.1016/j.berh.2020.101515. Epub 2020 May 7.
3
TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.
移植后炎症性肠病与供体来源的 TIM-3 缺乏有关。
J Clin Immunol. 2024 Feb 16;44(3):63. doi: 10.1007/s10875-024-01667-z.
4
Case Report: mutation-associated Hemophagocytic lymphohistiocytosis.病例报告：与突变相关的噬血细胞性淋巴组织细胞增生症。
Front Immunol. 2023 Nov 23;14:1271324. doi: 10.3389/fimmu.2023.1271324. eCollection 2023.
5
Germline mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis.胚系突变及其与皮下脂膜炎样 T 细胞淋巴瘤和噬血细胞性淋巴组织细胞增多症临床谱的关系：多中心研究和荟萃分析的结果。
Haematologica. 2023 Oct 1;108(10):2743-2752. doi: 10.3324/haematol.2022.282419.
TIM-3 缺陷表现为两次非克隆相关的肠系膜和皮下脂膜炎样 T 细胞淋巴瘤和噬血细胞性淋巴组织细胞增生症。
Pediatr Blood Cancer. 2020 Jun;67(6):e28302. doi: 10.1002/pbc.28302. Epub 2020 Apr 14.
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Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.胚系 HAVCR2 突变改变 TIM-3 特征性表现为伴有噬血细胞性淋巴组织细胞增生症的皮下脂膜炎样 T 细胞淋巴瘤。
Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29.
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