title: Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease.
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.
authors.affiliation: Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Dotta
authors.affiliation: Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.
authors.forename: Omar
authors.initials: O
authors.lastname: Scomodon
authors.affiliation: Unit of Paediatric Pneumonology, Spedali Civili of Brescia, Brescia, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Padoan
authors.affiliation: Unit of Paediatric Pneumonology, Spedali Civili of Brescia, Brescia, Italy.
authors.forename: Silviana
authors.initials: S
authors.lastname: Timpano
authors.affiliation: Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
authors.affiliation: Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.
authors.forename: Annarosa
authors.initials: A
authors.lastname: Soresina
authors.affiliation: Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.
authors.forename: Vassilios
authors.initials: V
authors.lastname: Lougaris
authors.affiliation: Department of Paediatrics, University of Catanzaro, Catanzaro, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Concolino
authors.affiliation: Department of Paediatrics, University of Catanzaro, Catanzaro, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Nicoletti
authors.affiliation: Department of Translational Medical Sciences, Federico II University, Naples, Italy.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Giardino
authors.affiliation: Department of Paediatrics, Foundation IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
authors.forename: Amelia
authors.initials: A
authors.lastname: Licari
authors.affiliation: Department of Paediatrics, Foundation IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Marseglia
authors.affiliation: Department of Translational Medical Sciences, Federico II University, Naples, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
authors.affiliation: Department of Medicine, General Pathology Unit, University of Verona, Verona, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Tamassia
authors.affiliation: Department of Molecular and Translational Medicine, Pathology Unit, University of Brescia, Brescia, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Facchetti
authors.affiliation: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Vairo
authors.affiliation: Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Badolato