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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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-03-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00271-2 |
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| _version_ | 1832594884156981248 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Naoko Nakatani |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-1a90bc74bc534caf9964134c488fb6fd |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-03-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-1a90bc74bc534caf9964134c488fb6fd2025-01-19T12:15:47ZengNature Publishing GroupHuman Genome Variation2054-345X2024-03-011111410.1038/s41439-024-00271-2A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiencyNaoko Nakatani0Akihiro Tamura1Hiroaki Hanafusa2Nanako Nino3Nobuyuki Yamamoto4Hiroyuki Awano5Yasuhiro Tanaka6Naoya Morisada7Suguru Uemura8Atsuro Saito9Daiichiro Hasegawa10Kandai Nozu11Yoshiyuki Kosaka12Department of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineResearch Initiative Center, Organization for Research Initiative and Promotion, Tottori UniversityDepartment of Hematology, Shinko HospitalDepartment of Clinical Genetics, Hyogo Prefectural Kobe Children’s HospitalDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children’s HospitalDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children’s HospitalDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children’s HospitalDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children’s HospitalAbstract 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.https://doi.org/10.1038/s41439-024-00271-2 |
| spellingShingle | 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 A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency Human Genome Variation |
| title | A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency |
| title_full | A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency |
| title_fullStr | A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency |
| title_full_unstemmed | A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency |
| title_short | A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency |
| title_sort | novel nfkb1 variant in a japanese pedigree with common variable immunodeficiency |
| url | https://doi.org/10.1038/s41439-024-00271-2 |
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