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Progressive B-cell loss in revertant X-SCID

We report the case of a patient with X-linked Severe Combined Immunodeficiency (X-SCID) who survived for over 20 years without hematopoietic stem cell transplantation (HSCT) because of a somatic mutation reversion. An important feature of this rare case included the strategy to validate the pathogen...

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Bibliografske podrobnosti
izdano v:J Clin Immunol
Main Authors: Lin, Connie H., Kuehn, Hye Sun, Thauland, Timothy J., Lee, Christine M., DeRavin, Suk See, Malech, Harry L., Keyes, Timothy J., Jager, Astraea, Davis, Kara L., Garcia-Lloret, Maria I., Rosenzweig, Sergio D., Butte, Manish J.
Format: Artigo
Jezik:Inglês
Izdano: 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7508923/
https://ncbi.nlm.nih.gov/pubmed/32681206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-020-00825-3
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