A Novel RAC2 Mutation Causing Combined Immunodeficiency.
Liang ZhangGe LvYu PengLu YangJunjie ChenYunfei AnZhiyong ZhangXuemei TangZhihui LiXiao-Dong ZhaoPublished in: Journal of clinical immunology (2022)
Our findings broaden the clinical and genetic spectra of RAC2 mutations and underline the importance of RAC2 gain-of-function mutations with complete or incomplete penetrance.