在一个患有常见变异型免疫缺陷的日本家系中发现的一种新型NFKB1变体。
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
作者信息
Nakatani Naoko, Tamura Akihiro, Hanafusa Hiroaki, Nino Nanako, Yamamoto Nobuyuki, Awano Hiroyuki, Tanaka Yasuhiro, Morisada Naoya, Uemura Suguru, Saito Atsuro, Hasegawa Daiichiro, Nozu Kandai, Kosaka Yoshiyuki
机构信息
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Department of Pediatrics, Hyogo Prefectural Harima-Himeji General Medical Center, Himeji, Japan.
出版信息
Hum Genome Var. 2024 Mar 22;11(1):15. doi: 10.1038/s41439-024-00271-2.
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.
最近，杂合功能丧失型NFKB1变异被确定为欧洲人群常见可变免疫缺陷（CVID）的主要病因。然而，日本人群中从未报道过致病性NFKB1变异。我们报告了一名患有CVID的29岁日本女性。在NFKB1中发现了一种新的变异，即c.136 C > T，p.(Gln46*)。她的母亲和女儿携带相同的变异，这是首个携带NFKB1致病性变异的日本家系。
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