Ontology highlight
ABSTRACT:
SUBMITTER: Kuo CY
PROVIDER: S-EPMC6181643 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Kuo Caroline Y CY Long Joseph D JD Campo-Fernandez Beatriz B de Oliveira Satiro S Cooper Aaron R AR Romero Zulema Z Hoban Megan D MD Joglekar Alok V AV Lill Georgia R GR Kaufman Michael L ML Fitz-Gibbon Sorel S Wang Xiaoyan X Hollis Roger P RP Kohn Donald B DB
Cell reports 20180501 9
X-linked hyper-immunoglobulin M (hyper-IgM) syndrome (XHIM) is a primary immunodeficiency due to mutations in CD40 ligand that affect immunoglobulin class-switch recombination and somatic hypermutation. The disease is amenable to gene therapy using retroviral vectors, but dysregulated gene expression results in abnormal lymphoproliferation in mouse models, highlighting the need for alternative strategies. Here, we demonstrate the ability of both the transcription activator-like effector nuclease ...[more]