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However, pathogenic <jats:italic>NFKB1<\/jats:italic> variants have never been reported in the Japanese population. We present a 29-year-old Japanese woman with CVID. A novel variant, c.136\u2009C\u2009&gt;\u2009T, p.(Gln46*), was identified in <jats:italic>NFKB1<\/jats:italic>. Her mother and daughter carried the same variant, demonstrating the first Japanese pedigree with an <jats:italic>NFKB1<\/jats:italic> pathogenic variant.<\/jats:p>","DOI":"10.1038\/s41439-024-00271-2","type":"journal-article","created":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T02:02:39Z","timestamp":1711072959000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency"],"prefix":"10.1038","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0006-2888","authenticated-orcid":false,"given":"Naoko","family":"Nakatani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Hanafusa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanako","family":"Nino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1006-7394","authenticated-orcid":false,"given":"Nobuyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Awano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoya","family":"Morisada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suguru","family":"Uemura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuro","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daiichiro","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0290-3137","authenticated-orcid":false,"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiyuki","family":"Kosaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,22]]},"reference":[{"key":"271_CR1","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.jaci.2013.12.1077","volume":"134","author":"B Gathmann","year":"2014","unstructured":"Gathmann, B. et al. 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