Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

PURPOSE: Complete interferon-γ receptor 1 (IFN-γR1) deficiency is a primary immunodeficiency causing predisposition to severe infection due to intracellular pathogens. Only 36 cases have been reported worldwide. The purpose of this article is to describe a large novel deletion found in 3 related cas...

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Detalles Bibliográficos
Autores principales: de Vor, Inge C., van der Meulen, Pomme M., Bekker, Vincent, Verhard, Els M., Breuning, Martijn H., Harnisch, Esther, van Tol, Maarten J. D., Wieringa, Jantien W., van de Vosse, Esther, Bredius, Robbert G. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792359/
https://www.ncbi.nlm.nih.gov/pubmed/26931784
http://dx.doi.org/10.1007/s10875-016-0244-y

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