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Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease

This paper describes the heterogeneous clinical phenotype of a cohort of nine patients diagnosed with heterozygous mutations in STAT1. We report data of extended immunophenotyping over time and we show lung damage in four patients. The increased phosphorylation of STAT1 in response to IFNγ and IFNα...

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Detalles Bibliográficos
Autores principales: Dotta, Laura, Scomodon, Omar, Padoan, Rita, Timpano, Silviana, Plebani, Alessandro, Soresina, Annarosa, Lougaris, Vassilios, Concolino, Daniela, Nicoletti, Angela, Giardino, Giuliana, Licari, Amelia, Marseglia, Gianluigi, Pignata, Claudio, Tamassia, Nicola, Facchetti, Fabio, Vairo, Donatella, Badolato, Raffaele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777981/
https://www.ncbi.nlm.nih.gov/pubmed/26981552
http://dx.doi.org/10.1016/j.dib.2016.02.040