Abstract
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 candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease” [1], where additional results and interpretation of our research can be found.
Highlights
This paper describes the heterogeneous clinical phenotype of a cohort of nine patients diagnosed with heterozygous mutations in STAT1
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 candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease” [1], where additional results and interpretation of our research can be found. & 2016 Published by Elsevier Inc
Summary
Table and figures Survey, computed tomography reading, flow cytometry (BD Phosflow), FACSCalibur (BD Bioscence), FlowJo version 7.5 Software (TreeStar) Raw and analyzed. The data provide novel clinical and immunological phenotypes of the emerging highly heterogeneous primary immunodeficiency due to heterozygous mutations of STAT1. The data of the increased STAT1 phosphorylation in response to IFNs confirm the gain-of-function as the pathogenetic mechanism of dominant mutations in STAT1. After identification of heterozygous defects, the gain-of-function nature of the STAT1 variants was demonstrated by prolonged phosphorylation of STAT1 with exaggerated signaling through. IFNγ and IFNα pathways for both previously reported (Fig. S1) [2,3,4] and for novel variants [1].
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