Article
Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells.
Journal of clinical immunology - 15 Jan 2025
Thouvenel Christopher D, Tipton Christopher M, Yamazaki Yasuhiro, Zhang Ting-Ting, Rylaarsdam Stacey, Hom Jennifer R, Snead Catherine, Zhu Chengsong, Li Quan-Zhen, Lee Yu Nee, Kawai Tomoki, Haque Neshatul, Zimmermann Michael T, Ponnan Sivasankaran Munusamy, Jackson Shaun W, James Rich G, Sanz Ignacio, Notarangelo Luigi D, Torgerson Troy R, Ochs Hans D, Rawlings David J, Allenspach Eric J
Abstract excerpt
Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in 3 of 7 siblings sharing the same RAG2 mutations over a 50-year study. Whole-genome and...
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