Università della Svizzera italiana

Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects

Rigoni, Rosita ; Fontana, Elena ; Guglielmetti, Simone ; Fosso, Bruno ; D’Erchia, Anna Maria ; Maina, Virginia ; Taverniti, Valentina ; Carmina Castiello, Maria ; Mantero, Stefano ; Pacchiana, Giovanni ; Musio, Silvia ; Pedotti, Rosetta ; Selmi, Carlo ; Mora, J. Rodrigo ; Pesole, Graziano ; Vezzoni, Paolo ; Poliani, Pietro Luigi ; Grassi, Fabio ; Villa, Anna ; Cassani, Barbara

In: The journal of experimental medicine, 2016, vol. 213, no. 3, p. 355-375

Omenn syndrome (OS) is caused by hypomorphic Rag mutations and characterized by a profound immunodeficiency associated with autoimmune-like manifestations. Both in humans and mice, OS is mediated by oligoclonal activated T and B cells. The role of microbial signals in disease pathogenesis is debated. Here, we show that Rag2R229Q knock-in mice developed an inflammatory bowel disease affecting...