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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Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2017-07-01
Collection:Frontiers in Immunology
Sujets:
Nijmegen breakage syndrome
hematopoietic stem cell transplantation
T-cell excision circle
kappa-deleting recombination excision circle
malignancy
granuloma
Accès en ligne:http://journal.frontiersin.org/article/10.3389/fimmu.2017.00807/full
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