Università della Svizzera italiana

Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

Cassani, Barbara ; Poliani, Pietro Luigi ; Marrella, Veronica ; Schena, Francesca ; Sauer, Aisha V. ; Ravanini, Maria ; Strina, Dario ; Busse, Christian E. ; Regenass, Stephan ; Wardemann, Hedda ; Martini, Alberto ; Facchetti, Fabio ; Burg, Mirjam van der ; Rolink, Antonius G. ; Vezzoni, Paolo ; Grassi, Fabio ; Traggiai, Elisabetta ; Villa, Anna

In: Journal of experimental medicine, 2010, vol. 207, no. 7, p. 1525-1540

Hypomorphic RAG mutations, leading to limited V(D)J rearrangements, cause Omenn syndrome (OS), a peculiar severe combined immunodeficiency associated with autoimmune-like manifestations. Whether B cells play a role in OS pathogenesis is so far unexplored. Here we report the detection of plasma cells in lymphoid organs of OS patients, in which circulating B cells are undetectable. Hypomorphic...

Università della Svizzera italiana

Dependence of immunoglobulin class switch recombination in B Cells on vesicular release of ATP and CD73 ectonucleotidase activity

Schena, Francesca ; Volpi, Stefano ; Faliti, Caterina Elisa ; Penco, Federica ; Santi, Spartaco ; Proietti, Michele ; Schenk, Ursula ; Damonte, Gianluca ; Salis, Annalisa ; Bellotti, Marta ; Fais, Franco ; Tenca, Claudya ; Gattorno, Marco ; Eibel, Hermann ; Rizzi, Marta ; Warnatz, Klaus ; Idzko, Marco ; Ayata, Cemil Korcan ; Rakhmanov, Mirzokhid ; Galli, Thierry ; Martini, Alberto ; Canossa, Marco ; Grassi, Fabio ; Traggiai, Elisabetta

In: Cell report, 2013, vol. 3, no. 6, p. 1824-1831

Immunoglobulin (Ig) isotype diversification by class switch recombination (CSR) is an essential process for mounting a protective humoral immune response. Ig CSR deficiencies in humans can result from an intrinsic B cell defect; however, most of these deficiencies are still molecularly undefined and diagnosed as common variable immunodeficiency (CVID). Here, we show that extracellular...