A Large Deletion in a Non-Coding Regulatory Region Leads to NFKB1 Haploinsufficiency in Two Adult Siblings.

Mathieu Fusaro,Cyrille Coustal,Laura Barnabei,Quentin Riller, Marion Heller, Duong Ho Nhat,Cecile Fourrage,Sophie Riviere,Frederic Rieux-Laucat,Alexandre Thibault Jacques Maria,Capucine Picard

Clinical immunology（2024）

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关键词

Nuclear factor k light-chain enhancer of acti-vated B cells (NFKB),NFKB1,p50,p105,Primary immunodeficiency,Inborn error of immunity (IEI),Hypogammaglobulinemia,Copy number variation (CNV),Promoter,Noncoding region

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