Article
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.
Molecular immunology - 1 Dec 2015
Martinez-Martinez Laura, Martinez-Saavedra Maria Teresa, Fuentes-Prior Pablo, Barnadas Maria, Rubiales Maria Victoria, Noda Judith, Badell Isabel, Rodríguez-Gallego Carlos, de la Calle-Martin Oscar
Abstract excerpt
Gain-of-function STAT1 mutations have recently been associated with autosomal dominant chronic mucocutaneous candidiasis (CMC). The purpose of this study was to characterize the three members of a non-consanguineous family, the father and his two sons, who presented with recurrent oral thrush and ocular candidiasis since early childhood. The three patients had reduced levels of IL-17-producing T cells. This...
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