Article
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.
Clinical immunology (Orlando, Fla.) - 1 Mar 2016
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
Abstract excerpt
In gain-of-function STAT1 mutations, chronic mucocutaneous candidiasis disease (CMCD) represents the phenotypic manifestation of a complex immunodeficiency characterized by clinical and immunological heterogeneity. We aimed to study clinical manifestations, long-term complications, molecular basis, and immune profile of patients with dominant CMCD. We identified nine patients with heterozygous mutations in STAT1,...
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