A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

Naoko Nakatani; Akihiro Tamura; Hiroaki Hanafusa; Nanako Nino; Nobuyuki Yamamoto; Hiroyuki Awano; Yasuhiro Tanaka; Naoya Morisada; Suguru Uemura; Atsuro Saito; Daiichiro Hasegawa; Kandai Nozu; Yoshiyuki Kosaka

doi:10.1038/s41439-024-00271-2

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

Hum Genome Var. 2024 Mar 22;11(1):15. doi: 10.1038/s41439-024-00271-2.

Authors

Affiliations

¹ Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
² Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. atamura@med.kobe-u.ac.jp.
³ Department of Pediatrics, Hyogo Prefectural Harima-Himeji General Medical Center, Himeji, Japan.
⁴ Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Tottori, Japan.
⁵ Department of Hematology, Shinko Hospital, Kobe, Japan.
⁶ Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
⁷ Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.

Abstract

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.