NK cell defects in X-linked pigmentary reticulate disorder

X-linked reticulate pigmentary disorder (XLPDR, Mendelian Inheritance in Man #301220) is a rare syndrome characterized by recurrent infections and sterile multiorgan inflammation. The syndrome is caused by an intronic mutation in POLA1, the gene encoding the catalytic subunit of DNA polymerase-α (Po...

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Veröffentlicht in:JCI Insight
Hauptverfasser: Starokadomskyy, Petro, Wilton, Katelynn M., Krzewski, Konrad, Lopez, Adam, Sifuentes-Dominguez, Luis, Overlee, Brittany, Chen, Qing, Ray, Ann, Gil-Krzewska, Aleksandra, Peterson, Mary, Kinch, Lisa N., Rohena, Luis, Grunebaum, Eyal, Zinn, Andrew R., Grishin, Nick V., Billadeau, Daniel D., Burstein, Ezra
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2019
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6948767/
https://ncbi.nlm.nih.gov/pubmed/31672938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.125688
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