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Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

All the human primary immunodeficiencies (PIDs) recognized as such in the 1950s were Mendelian traits and, whether autosomal or X-linked, displayed recessive inheritance. The first autosomal dominant (AD) PID, hereditary angioedema, was recognized in 1963. However, since the first identification of...

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Detalhes bibliográficos
Publicado no:Curr Opin Immunol
Main Authors: Boisson, Bertrand, Quartier, Pierre, Casanova, Jean-Laurent
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4364384/
https://ncbi.nlm.nih.gov/pubmed/25645939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.coi.2015.01.005
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