Article
Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.
Frontiers in immunology - 1 Jan 2026
Moriya Kunihiko, Kamiyama Yuji, Ogino Ryo, Kaneko Shuya, Isoda Takeshi, Kamiya Takahiro, Sakai Yuki, Hirose Fumi, Hagiwara Hidetoshi, Iwama Itaru, Nambu Ryusuke, Uejima Yoji, Sakura Fumiaki, Tsumura Miyuki, Izawa Kazushi, Matsuda Yusuke, Nakatani Naoko, Tamura Akihiro, Nozawa Tomo, Shimizu Masaki, Wada Taizo, Okada Satoshi, Kanegane Hirokazu, Imai Kohsuke
Abstract excerpt
Background: NFKB1 haploinsufficiency caused by monoallelic loss-of-function variants in NFKB1 results in a CVID-like phenotype or other forms of hypogammaglobulinemia. Objective: This study aims to characterize the clinical and immunological profiles of 21 individuals from nine families with this disorder. Methods: Gene panel sequence and/or whole exome sequence, followed by Sanger sequencing, were used to...
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