68 LRBA dysfunction: a new diagnostic entity caused by biallelic LRBA missense variants results in reduced CTLA-4 expression and autoimmunity
Samuel Chiang,Luis Murguia-Favela,Nicola Wright, MacGregor Steele,Christine Seroogy, Geraldine Blanchard-Rohner, Anitha Shrikhande, Jo Wilson,Li Yang,Erika Owsley, Nicholas Hartog, Araceli Elizalde,Jack Bleesing,Victoria Dimitriades, Maria Jimena Gutierrez, Xiao Peng,Beata Derfalvi,Rae Brager,Michael Jordan,Ashish Marwaha Clinical Immunology(2024)
关键词
LRBA,Immune dysregulation,CTLA4,IEI,Autoimmuinity
AI 理解论文
溯源树
样例