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Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7.
J Allergy Clin Immunol. 2018.
PMID: 28392333
Free PMC article.
We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-like factor (Cernunnos-XLF) deficiency, and ataxia-telangiectasia (AT). ...Twenty-two received MAC, 59 received RIC, and 4 were infused; information …
We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-like fac …
Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.
Schober S, Schilbach K, Doering M, Cabanillas Stanchi KM, Holzer U, Kasteleiner P, Schittenhelm J, Schaefer JF, Mueller I, Lang P, Handgretinger R.
Schober S, et al.
BMC Pediatr. 2019 Oct 11;19(1):346. doi: 10.1186/s12887-019-1724-z.
BMC Pediatr. 2019.
PMID: 31604460
Free PMC article.
Review.
BACKGROUND: DNA ligase IV deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV (LIG4) gene. ...The laboratory findings showed pancytopenia with significant lymphopenia. The two boys were diagnosed with …
BACKGROUND: DNA ligase IV deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in t …
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