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信号转导和转录激活因子6功能获得性疾病：p.D519N是一种对度普利尤单抗治疗反应良好的新型致病变体。

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.

作者信息

Samra Simran, Cook Eleanor, Wilson Jessica, Sharma Mehul, Golding Liam, Yao David T, Marsh Rebecca A, Turvey Stuart E

机构信息

Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, British Columbia, Canada.

Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.

出版信息

J Allergy Clin Immunol Glob. 2025 May 9;4(3):100494. doi: 10.1016/j.jacig.2025.100494. eCollection 2025 Aug.

DOI:10.1016/j.jacig.2025.100494
PMID:40502541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12155559/
Abstract

This case report presents a new genetic variant that causes STAT6 gain-of-function disease in 2 patients, expands the clinical phenotype of STAT6 gain-of-function disease, and describes its authors' success in using therapeutics to manage this rare disease.

摘要

本病例报告介绍了一种新的基因变异，该变异在两名患者中导致STAT6功能获得性疾病，扩展了STAT6功能获得性疾病的临床表型，并描述了作者在使用治疗方法治疗这种罕见疾病方面取得的成功。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a22a/12155559/daf4147d1a7b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a22a/12155559/daf4147d1a7b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a22a/12155559/daf4147d1a7b/gr1.jpg

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STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.信号转导和转录激活因子6功能获得性疾病：p.D519N是一种对度普利尤单抗治疗反应良好的新型致病变体。
J Allergy Clin Immunol Glob. 2025 May 9;4(3):100494. doi: 10.1016/j.jacig.2025.100494. eCollection 2025 Aug.
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本文引用的文献

1
JAK-STAT signaling pathway, immunodeficiency, inflammation, immune dysregulation, and inborn errors of immunity.JAK-STAT信号通路、免疫缺陷、炎症、免疫失调及先天性免疫缺陷病
J Allergy Clin Immunol. 2025 Feb;155(2):357-367. doi: 10.1016/j.jaci.2024.09.020. Epub 2024 Oct 4.
2
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond.信号转导和转录激活因子6（STAT6）的人类种系功能获得：从严重过敏性疾病到淋巴瘤及其他。
Trends Immunol. 2024 Feb;45(2):138-153. doi: 10.1016/j.it.2023.12.003. Epub 2024 Jan 17.
3
IL-4Rα Inhibition for Severe "Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis" Syndrome due to a Gain-of-Function Variant in STAT6.
针对由STAT6功能获得性变异导致的严重“嗜酸性粒细胞性胃肠炎、过敏和过敏反应”综合征的IL-4Rα抑制作用
J Clin Immunol. 2023 Dec 22;44(1):29. doi: 10.1007/s10875-023-01639-9.
4
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.常染色体显性 STAT6 功能获得性突变导致严重特应性皮炎伴发淋巴瘤。
J Clin Immunol. 2023 Oct;43(7):1611-1622. doi: 10.1007/s10875-023-01530-7. Epub 2023 Jun 14.
5
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.人类种系杂合功能获得性 STAT6 变体导致严重的过敏疾病。
J Exp Med. 2023 May 1;220(5). doi: 10.1084/jem.20221755. Epub 2023 Mar 8.
6
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.由于转录因子 STAT6 功能获得性突变导致严重过敏失调。
J Allergy Clin Immunol. 2023 Jul;152(1):182-194.e7. doi: 10.1016/j.jaci.2023.01.023. Epub 2023 Feb 8.
7
STAT6 gain-of-function variant exacerbates multiple allergic symptoms.STAT6 功能获得性变异加重多种过敏症状。
J Allergy Clin Immunol. 2023 May;151(5):1402-1409.e6. doi: 10.1016/j.jaci.2022.12.802. Epub 2022 Dec 17.
8
A germline STAT6 gain-of-function variant is associated with early-onset allergies.一种生殖系 STAT6 功能获得性变异与早发性过敏相关。
J Allergy Clin Immunol. 2023 Feb;151(2):565-571.e9. doi: 10.1016/j.jaci.2022.09.028. Epub 2022 Oct 7.
9
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
10
IL-4 induces serine phosphorylation of the STAT6 transactivation domain in B lymphocytes.白细胞介素-4诱导B淋巴细胞中信号转导和转录激活因子6（STAT6）反式激活结构域的丝氨酸磷酸化。
Mol Immunol. 2000 Aug;37(11):641-52. doi: 10.1016/s0161-5890(00)00088-2.