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Buzby, Jeffrey S.

https://orcid.org/0000-0001-7863-7894

A5090490090 | I1304278710

Mayo Clinic

Children's Hospital of Orange County

Citations 1

Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency

Blood Advances | July 30, 2018 | Volume: 2 | Issue: 15 | Pages: 1828-1832

10.1182/bloodadvances.2018016113 | PMID 30061307

Key Points DNA ligase 4 deficiency is a defect causing lymphopenia (T-B-NK+) and a radiosensitive severe combined immunodeficiency phenotype. Flow cytometric analysis of phosphorylation/dephosphorylation states of histone H2AX allows for in-depth lineage-specific assessment.