A novel NFKB2 mutation in a Chinese patient with DAVID syndrome
Gene（2019）
Abstract
•We report a novel heterozygous mutation c.2601_2602delGCinsA (p.Tyr867*) in NFKB2 resulted in DVAID syndrome.•The mutation was predicted to abrogate the processing of the p100 NFKB2 protein to its active form p52.•Our study broadens mutation spectrum of NFKB2 gene.
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Key words
DAVID syndrome,NK,ACMG,NIK
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