Clinical Relevance of Loss-of-function Mutations of NEMO/IKBKG
Genes & Diseases(2025)
关键词
Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID),Immunodeficiency (ID),Incontinentia pigmenti (IP),Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma (IKBKG),NEMO deleted exon 5 autoinflammatory syndrome (NDAS),Nuclear factor-κB (NF-κB) essential modulator (NEMO)
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