Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)

BackgroundNijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to the...

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Ngā kaituhi matua:	Elena Deripapa, Dmitry Balashov, Yulia Rodina, Alexandra Laberko, Natalya Myakova, Nataliia V. Davydova, Maria A. Gordukova, Dmitrii S. Abramov, Galina V. Pay, Larisa Shelikhova, Andrey P. Prodeus, Mikhail A. Maschan, Alexey A. Maschan, Anna Shcherbina
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Frontiers Media S.A. 2017-07-01
Rangatū:	Frontiers in Immunology
Ngā marau:	Nijmegen breakage syndrome hematopoietic stem cell transplantation T-cell excision circle kappa-deleting recombination excision circle malignancy granuloma
Urunga tuihono:	http://journal.frontiersin.org/article/10.3389/fimmu.2017.00807/full
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