Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Journal of Allergy and Clinical Immunology（2017）
摘要
Our findings broaden the scope of phenotypes caused by mutations in NFKB1 and suggest that a subset of autoinflammatory diseases, such as Behçet disease, can be caused by rare monogenic variants in genes of the NF-κB pathway.
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关键词
Nuclear factor κ light-chain enhancer of activated B cells,hypogammaglobulinemia,autoinflammation,Behçet disease,NFKB1,p50,p105,B cell
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