Article
From phenotype to genotype : discovery of new molecular primary immunodeficiencies
2021-01-01
Abstract excerpt
Since the 1950s, the investigation of genetic causes of primary immunodeficiencies has fundamentally shaped our understanding of the immune system, and that fountain of knowledge has continued to expand explosively as we enter the genomic era with the dawn of CRISPR and personalized medicine. In this work, I describe four new monogenetic causes of primary immunodeficiency (PID) and a novel gene that may be associa...
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Identifiers and source
- Literature Corpus work
- d9b5a370-b71a-5b0b-b523-b6024b8e2d03
- DOI
- 10.17863/cam.66614
