病例报告:一种具有致病性NFKB1变体和可变临床表现的家族中的新型CXCR4变体 (p.S341Y)

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Updated: Sep 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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Melis Yilmaz1, Katarina Zmajkovicova2, Rahim Z Miller1,3

  • 1Division of Allergy and Immunology, Department of Pediatrics and Medicine, Morsani College of Medicine, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.

Frontiers in immunology
|September 5, 2025
PubMed
概括

通常来自CXCR4变异的WHIM综合征可以通过其他基因进行修改. 这项研究发现了一种新的CXCR4变体和一种NFKB1变体导致混合WHIM/CVID表型.

关键词:
在CVID在CXCR其他国家美国中性贫血症

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