A Large Deletion in a Non-Coding Regulatory Region Leads to NFKB1 Haploinsufficiency in Two Adult Siblings.
Clinical Immunology（2024）
Key words
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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