Eleonora Gambineri

TL;DR: The clinical features of IPEX and the structure, function, and known mutations of FOXP3 that provide important insights into its role in maintenance of immune homeostasis are described.

TL;DR: The findings indicate that FOXP3 mutations in IPEX patients result in heterogeneous biological abnormalities, leading not necessarily to a lack of differentiation of CD4+ CD25high Tregs but rather to a dysfunction in these cells and in effector T cells.

TL;DR: In this article, the authors investigated the role of IL-12Rbeta1-dependent signals in the development of human IL-17-producing T helper cells in vivo by quantifying the production and secretion of human interleukin (IL) 17 by fresh T cells ex vivo, and by T cell blasts expanded in vitro from patients with particular genetic traits affecting transforming growth factor (TGF) beta, IL-1, IL 6, or IL-23 responses.

TL;DR: In this paper, the role of gain-of-function mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial infections (amorphic alleles) to mild disseminated mycobacterial disease (hypomorphic alleles), to chronic mucocutaneous candidiasis (CMC; hypermorphic allele).

TL;DR: A new mutation within an upstream noncoding region of FOXP3 results in a variant of IPEX syndrome associating autoimmune and severe immunoallergic symptoms.