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...
Na minha lista:
| Principais autores: | , , , , , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2024-03-01
|
| Colecção: | Human Genome Variation |
| Acesso em linha: | https://doi.org/10.1038/s41439-024-00271-2 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|