Article
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
The Journal of allergy and clinical immunology - 1 Dec 2008
Gambineri Eleonora, Perroni Lucia, Passerini Laura, Bianchi Lucia, Doglioni Claudio, Meschi Franco, Bonfanti Riccardo, Sznajer Yves, Tommasini Alberto, Lawitschka Anita, Junker Anne, Dunstheimer Desiree, Heidemann Peter H, Cazzola Giantonio, Cipolli Marco, Friedrich Wilhelm, Janic Dragana, Azzi Nadira, Richmond Erick, Vignola Silvia, Barabino Arrigo, Chiumello Giuseppe, Azzari Chiara, Roncarolo Maria-Grazia, Bacchetta Rosa
Abstract excerpt
BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune genetic disorder caused by mutation of the forkhead box protein 3 gene (FOXP3), a key regulator of immune tolerance. OBJECTIVE: We sought to provide clinical and molecular indicators that facilitate the understanding and diagnosis of IPEX syndrome. METHODS: In 14 unrelated affected male subjects who were...
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