一名患有TTC7A突变的患者的难治性瘙痒对度普利尤单抗有反应。 - Suppr

Refractory pruritus responds to dupilumab in a patient with TTC7A mutation.

作者信息

Alipour Tehrany Yassaman, Marois Louis, Colmant Caroline, Marchand Valérie, Kokta Victor, Coulombe Jérôme, Marcoux Danielle, Haddad Elie, McCuaig Catherine

机构信息

Division of Dermatology, Centre Hospitalier Universitaire Ste-Justine, Montréal, Québec, Canada.

Division of Immunology, Centre Hospitalier Universitaire Ste-Justine, Montréal, Québec, Canada.

出版信息

JAAD Case Rep. 2020 Dec 10;8:9-12. doi: 10.1016/j.jdcr.2020.12.004. eCollection 2021 Feb.

DOI:10.1016/j.jdcr.2020.12.004

PMID:33457482

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7797900/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36fe/7797900/726fe0b77d99/gr1.jpg

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Refractory pruritus responds to dupilumab in a patient with TTC7A mutation.一名患有TTC7A突变的患者的难治性瘙痒对度普利尤单抗有反应。

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Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.慢性肠道假性梗阻和淋巴组织增生综合征作为一种与四肽重复结构域 7A 缺陷相关的新型表型。

Front Immunol. 2019 Nov 7;10:2592. doi: 10.3389/fimmu.2019.02592. eCollection 2019.

Novel Mutations of the Gene and Phenotype/Genotype Comparison.该基因的新型突变及表型/基因型比较

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Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.与TTC7A缺陷相关的伴有联合免疫缺陷的多发性肠闭锁是一种多器官病变：基于法裔加拿大人队列的研究

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Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.伴有 TTC7A 种系突变的儿科胃肠组织病理学：一种导致多发性肠闭锁、严重联合免疫缺陷和先天性肠病的罕见病症。

Am J Surg Pathol. 2022 Jun 1;46(6):846-853. doi: 10.1097/PAS.0000000000001856. Epub 2022 Jan 5.

Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency.一名患有TTC7A缺陷的患者出现联合免疫缺陷伴炎症性肠病。

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Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.一名患有多处肠闭锁和联合免疫缺陷的新生儿中的四肽重复结构域7A（TTC7A）突变

J Clin Immunol. 2014 Aug;34(6):607-10. doi: 10.1007/s10875-014-0067-7. Epub 2014 Jun 17.

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Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A).胃肠道缺陷与免疫缺陷综合征-1（GIDID1）（与TTC7A相关）患者的表型和基因型的系统评价

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Biomolecules. 2023 Mar 31;13(4):634. doi: 10.3390/biom13040634.

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.成人患者中显性负性信号转导子和转录激活子（STAT）3 变异体：单中心经验。

Front Immunol. 2022 Dec 20;13:1044933. doi: 10.3389/fimmu.2022.1044933. eCollection 2022.

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.多发性肠闭锁伴联合免疫缺陷中由 TTC7A 纯合突变引起的显著滤泡角化病。

Genes (Basel). 2022 May 4;13(5):821. doi: 10.3390/genes13050821.

本文引用的文献

Chronic Pruritus Responding to Dupilumab-A Case Series.度普利尤单抗治疗有效的慢性瘙痒——病例系列

Medicines (Basel). 2019 Jun 29;6(3):72. doi: 10.3390/medicines6030072.

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.对于患有与早期炎症性肠病相关的反复肠闭锁的患者，必须考虑TTC7A突变：两例新病例报告及文献综述。

Arch Pediatr. 2018 Jun 16. doi: 10.1016/j.arcped.2018.05.006.

Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes.在炎症性皮肤病中，上皮细胞的增殖受成纤维细胞和淋巴细胞中四肽重复结构域 7（Ttc7）的调节。

J Allergy Clin Immunol. 2019 Jan;143(1):292-304.e8. doi: 10.1016/j.jaci.2018.02.057. Epub 2018 Jun 14.

Sensory Neurons Co-opt Classical Immune Signaling Pathways to Mediate Chronic Itch.感觉神经元利用经典免疫信号通路介导慢性瘙痒。

Cell. 2017 Sep 21;171(1):217-228.e13. doi: 10.1016/j.cell.2017.08.006. Epub 2017 Sep 7.

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.鱼鳞病作为与TTC7A突变相关的皮肤病学表型。

Br J Dermatol. 2016 Nov;175(5):1061-1064. doi: 10.1111/bjd.14644. Epub 2016 Aug 31.

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.免疫缺陷相关肠病-淋巴细胞减少-脱发综合征由四肽重复结构域 7A 缺陷引起。

J Allergy Clin Immunol. 2014 Dec;134(6):1354-1364.e6. doi: 10.1016/j.jaci.2014.07.019. Epub 2014 Aug 28.

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.TTC7A 突变破坏肠道上皮细胞的顶底极性。

J Clin Invest. 2014 Jan;124(1):328-37. doi: 10.1172/JCI71471.

J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013. Epub 2013 Jul 4.

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.外显子组测序鉴定出遗传性多发肠闭锁法国裔加拿大病例中 TTC7A 基因突变。

J Med Genet. 2013 May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19.

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Refractory pruritus responds to dupilumab in a patient with TTC7A mutation.

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