一个新型的炎症性自身免疫类型的NTRK1相关的表型在一个成年男性

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Updated: Jan 28, 2026

On-Chip Endothelial Inflammatory Phenotyping
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On-Chip Endothelial Inflammatory Phenotyping

Published on: July 21, 2012

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Anton Karabinos1,2, Erika Tomkova3,4, Adriana Sprincova1

  • 1Laboratory of Clinical Genetics, Medirex, Inc., Kosice, Slovak Republic.

Molecular syndromology
|January 26, 2026
PubMed
概括

由于NTRK1突变的先天性无敏性与无水 (CIPA) 疼痛可以在成年时表现为自身免疫类症状. 这一案例突出了CIPA的新型成人发病表型,表明NGF信号缺陷与自身免疫之间存在联系.

关键词:
带有无水的先天性疼痛不敏感.外体序列排序是如何进行的遗传学 是一个遗传学.类似自身免疫性炎症性疾病.在NTRK1中.

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