De novo NFKBIA variants within the N-terminal hotspot: consistent immunophenotype and divergent clinical presentations.

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Title: De novo NFKBIA variants within the N-terminal hotspot: consistent immunophenotype and divergent clinical presentations.
Authors: Gan R; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China., Li G; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China., Zhou L; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China., Wang L; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China., Dai R; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China., Tang X; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China., Wu J; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China., Jia Y; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.; Department of Laboratory, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhou Q; Life Sciences Institute, Zhejiang University, Hangzhou, China.; Liangzhu Laboratory, Zhejiang University Medical Center, Hangzhou, China., Zhao X; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China., An Y; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Source: Frontiers in immunology [Front Immunol] 2026 Jun 05; Vol. 17, pp. 1854185. Date of Electronic Publication: 2026 Jun 05 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1664-3224
DOI:10.3389/fimmu.2026.1854185