Citations 1
Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency
Buchbinder, David , Cowan, Morton J. , Buzby, Jeffrey S. , Abraham, Roshini S. , Smith, Matthew J, Buzby, Jeffrey S , Smith, Matthew James , Kawahara, Misako
Blood Advances | July 30, 2018 | Volume: 2 | Issue: 15 | Pages: 1828-1832
10.1182/bloodadvances.2018016113
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.