Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency-Reference-Cited by-同舟云学术

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

Published:2018-07-30 Issue:15 Volume:2 Page:1828-1832
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Buchbinder David¹²,Smith Matthew J.³,Kawahara Misako⁴,Cowan Morton J.⁴,Buzby Jeffrey S.⁵^ORCID,Abraham Roshini S.³

Affiliation:

1. Department of Hematology, Children's Hospital of Orange County, Orange, CA;

2. Department of Pediatrics, University of California at Irvine, Orange, CA;

3. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN;

4. Allergy Immunology and Blood and Marrow Transplant Division, Department of Pediatrics, University of California, San Francisco, CA; and

5. Hematology Research & Advanced Diagnostics Laboratories, Children’s Hospital of Orange County, Orange, CA

Abstract

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.

Publisher

American Society of Hematology

Subject

Hematology

Link

http://ashpublications.org/bloodadvances/article-pdf/2/15/1828/881209/advances016113.pdf

Reference11 articles.

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2. Non-homologous DNA end joining and alternative pathways to double-strand break repair;Chang;Nat Rev Mol Cell Biol,2017

3. Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?;Cowan;J Allergy Clin Immunol,2015

4. Radiosensitive severe combined immunodeficiency disease;Dvorak;Immunol Allergy Clin North Am,2010

5. Gamma-H2AX - a novel biomarker for DNA double-strand breaks;Kuo;In Vivo,2008

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