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

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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2024-03-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00271-2

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https://doi.org/10.1038/s41439-024-00271-2

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