Abstract
DNA repair disorders predispose the development of primary immunodeficiency and lymphoma. Epstein-Barr virus (EBV)-associated B-cell lymphomas and precursor T-cell lymphoblastic leukemia/lymphomas are described in ligase 4–deficient (LIG4) patients, presenting with variable T- and B-cell immunodeficiency, radiosensitivity, microcephaly, developmental delay, and cytopenias.1 We report on one of the first patients, 411BR, who carried a homozygous 833G>A/R278H mutation and 2 cooperating homozygous N-terminal single nucleotide polymorphisms.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
