GAIN OF FUNCTION STAT1 MUTATION-RELATED PRIMARY IMMUNODEFICIENCY IS ASSOCIATED WITH DISSEMINATED MUCORMYCOSIS

We identified a novel gain of function mutation in STAT1 in a patient with disseminated Apophysomyces trapeziformis infection who had never had mucocutaneous candidiasis or autoimmunity. To our knowledge this is the first report of a genetic predisposition associated with mucormycosis.

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Detalhes bibliográficos
Main Authors: Kumar, Nilay, Hanks, Mary E., Chandrasekaran, Prabha, Davis, Brian C., Hsu, Amy P., Van Wagoner, Nicholas J., Merlin, Jessica S., Spalding, Christine, La Hoz, Ricardo M., Holland, Steven M., Zerbe, Christa S., Sampaio, Elizabeth P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4125455/
https://ncbi.nlm.nih.gov/pubmed/24709374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2014.02.037
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