Recently, heterozygous loss-of-function NFKB1 variants were identified as the primary cause of common variable immunodeficiency (CVID) in the European population. However, pathogenic NFKB1 variants have never been reported in the Japanese population. We present a 29-year-old Japanese woman with CVID. A novel variant, c.136 C > T, p.(Gln46*), was identified in NFKB1. Her mother and daughter carried the same variant, demonstrating the first Japanese pedigree with an NFKB1 pathogenic variant.

中文翻译：

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患有常见变异型免疫缺陷的日本家系中的一种新的 NFKB1 变异

最近，杂合性功能缺失NFKB1变异被确定为欧洲人群常见变异免疫缺陷 (CVID) 的主要原因。然而，日本人群中从未报道过致病性NFKB1变异。我们介绍一位患有 CVID 的 29 岁日本女性。在NFKB1中鉴定出一种新的变体 c.136 C > T, p.(Gln46*) 。她的母亲和女儿携带相同的变异，这证明了第一个带有NFKB1致病变异的日本血统。