Clinical relevance of loss-of-function mutations of NEMO/IKBKG

Dysfunctional inhibitor of nuclear factor-κB (NF-κB) kinase regulatory subunit gamma (IKBKG) is known to trigger incontinentia pigmenti (IP), anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), immunodeficiency (ID), and IKBKG deleted exon 5 autoinflammatory syndrome (NDAS). The correlat...

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Bibliographic Details
Main Authors: Jin Wang, Kexin Shen, Hongxia Lou, Lina Zhou, Yunfei An, Xiaodong Zhao, Yuan Ding
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-09-01
Series:Genes and Diseases
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Online Access:http://www.sciencedirect.com/science/article/pii/S2352304225000200
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