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

@article{Dotta2016ClinicalAI,
  title={Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease.},
  author={Laura Dotta and Omar Scomodon and Rita Francesca Padoan and Silviana Timpano and Alessandro Plebani and Annarosa Soresina and Vassilios Lougaris and Daniela Concolino and Angela Nicoletti and Giuliana Giardino and Amelia Licari and Gianluigi L. Marseglia and Claudio Pignata and Nicola Tamassia and Fabio F. Facchetti and Donatella Vairo and Raffaele Badolato},
  journal={Data in brief},
  year={2016},
  volume={7},
  pages={311-5}
}
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 stimulation proves the gain-of-function nature of the defects. The data are supplemental to our original article concurrently published "Clinical heterogeneity of dominant chronic mucocutaneous… CONTINUE READING