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Updated: Jun 30, 2025

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一个日本血统中的新型NFKB1变体,具有常见的可变免疫缺陷

Naoko Nakatani1, Akihiro Tamura2, Hiroaki Hanafusa1

  • 1Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Human genome variation
|March 22, 2024
PubMed
概括

在NFKB1中异合体功能丧失变体是常见变异性免疫缺陷 (CVID) 的常见原因. 这项研究报告了第一个具有致病性NFKB1变异的日本家庭,扩大了CVID遗传知识.

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