Anna Villa

Head of Research

Area of Interest

2008-2020         Head of Human Genome Unit, Istituto Clinico Humanitas, Milan Italy

2006-present     Head of Unit of “Pathogenesis and Treatment of immune and bone     disease” at Telethon Institute for Gene Therapy, San Raffaele, Milan, Italy

The main focus of Villa’s research has been the molecular and cellular dissection of severe combined immunodeficiencies (SCID). My team identified the genes responsible for: Jak3 deficiency (Nature 1995), hypomorphic RAG defects (Cell 1998), X-linked thrombocytopenia (Nature Genetics 1995). In parallel, her team has identified the molecular basis of Osteopetrosis (Nature Genetics, 2000), RANKL and RANK as genes responsible for the osteoclast poor Osteopetrosis (Nature Genetics, 2007; Am J Human Genetics, 2008). I coordinate a group working on cellular basis of autoimmunity in primary immunodeficiency and novel approaches of cellular therapies including gene therapy and gene editing in hematopoietic stem cell progenitors. My team is also involved in the development of a clinical trial of gene therapy to cure autosomal recessive osteopetrosis caused by defects in TCIRG1 gene.

Most significant publications

2021

Castiello, M C; Bosticardo, M; Sacchetti, N; Calzoni, E; Fontana, E; Yamazaki, Y; Draghici, E; Corsino, C; Bortolomai, I; Sereni, L; Yu, H H; Uva, P; Palchaudhuri, R; Scadden, D T; Villa, A; Notarangelo, L D

Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency Journal Article

J Allergy Clin Immunol, 147 (1), pp. 309–320, 2021.

BibTeX

Capo, V; Penna, S; Merelli, I; Barcella, M; Scala, S; Basso-Ricci, L; Draghici, E; Palagano, E; Zonari, E; Desantis, G; Uva, P; Cusano, R; Sergi, Sergi L; Crisafulli, L; Moshous, D; Stepensky, P; Drabko, K; Kaya, Z; Unal, E; Gezdirici, A; Menna, G; Serafini, M; Aiuti, A; Locatelli, S L; Carlo-Stella, C; Schulz, A S; Ficara, F; Sobacchi, C; Gentner, B; Villa, A

Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of ŦCIRG1 osteopetrosis Journal Article

Haematologica, 106 (1), pp. 74–86, 2021.

BibTeX

2020

Rigoni, R; Fontana, E; Dobbs, K; Marrella, V; Taverniti, V; Maina, V; Facoetti, A; DÁmico, G; Al-Herz, W; Cruz-Munoz, M E; Schuetz, C; Gennery, A R; Garabedian, E K; Giliani, S; Draper, D; Dbaibo, G; Geha, R S; Meyts, I; Tousseyn, T; Neven, B; Moshous, D; Fischer, A; Schulz, A; Finocchi, A; Kuhns, D B; Fink, D L; Lionakis, M S; Swamydas, M; Guglielmetti, S; Alejo, J; Myles, I A; Pittaluga, S; Notarangelo, L D; Villa, A; Cassani, B

Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome Journal Article

J Allergy Clin Immunol, 146 (5), pp. 1165–1179, 2020.

BibTeX

Delmonte, O M; Villa, A; Notarangelo, L D

Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency Journal Article

Blood, 135 (9), pp. 610–619, 2020.

BibTeX

2019

Ferrua, F; Cicalese, M P; Galimberti, S; Giannelli, S; Dionisio, F; Barzaghi, F; Migliavacca, M; Bernardo, M E; Calbi, V; Assanelli, A A; Facchini, M; Fossati, C; Albertazzi, E; Scaramuzza, S; Brigida, I; Scala, S; Basso-Ricci, L; Pajno, R; Casiraghi, M; Canarutto, D; Salerio, F A; Albert, M H; Bartoli, A; Wolf, H M; Fiori, R; Silvani, P; Gattillo, S; Villa, A; Biasco, L; Dott, C; Culme-Seymour, E J; van Rossem, K; Atkinson, G; Valsecchi, M G; Roncarolo, M G; Ciceri, F; Naldini, L; Aiuti, A

Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study Journal Article

Lancet Haematol, 6 (5), pp. e239-e253, 2019.

BibTeX

Sereni, L; Castiello, M C; Silvestre, Di D; Valle, Della P; Brombin, C; Ferrua, F; Cicalese, M P; Pozzi, L; Migliavacca, M; Bernardo, M E; Pignata, C; Farah, R; Notarangelo, L D; Marcus, N; Cattaneo, L; Spinelli, M; Giannelli, S; Bosticardo, M; van Rossem, K; DÁngelo, A; Aiuti, A; Mauri, P; Villa, A

Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome Journal Article

J Allergy Clin Immunol, 144 (3), pp. 825–838, 2019.

BibTeX

Villa, A; Notarangelo, L D

RAG gene defects at the verge of immunodeficiency and immune dysregulation Journal Article

Immunol Rev, 287 (1), pp. 73–90, 2019.

BibTeX

2018

Capo, V; Castiello, M C; Fontana, E; Penna, S; Bosticardo, M; Draghici, E; Poliani, L P; Sergi, Sergi L; Rigoni, R; Cassani, B; Zanussi, M; Carrera, P; Uva, P; Dobbs, K; Sacchetti, N; Notarangelo, L D; van Til, N P; Wagemaker, G; Villa, A

Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation Journal Article

J Allergy Clin Immunol, 142 (3), pp. 928–941, 2018.

BibTeX

Sereni, L; Castiello, M C; Marangoni, F; Anselmo, A; di Silvestre, D; Motta, S; Draghici, E; Mantero, S; Thrasher, A J; Giliani, S; Aiuti, A; Mauri, P; Notarangelo, L D; Bosticardo, M; Villa, A

Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation Journal Article

J Allergy Clin Immunol, 142 (4), pp. 1272–1284, 2018.

BibTeX

Cervantes-Luevano, K E; Caronni, N; Castiello, M C; Fontana, E; Piperno, G M; Naseem, A; Uva, P; Bosticardo, M; Marcovecchio, G E; Notarangelo, L D; Cicalese, M P; Aiuti, A; Villa, A; Benvenuti, F

Neutrophils drive type I interferon production and autoantibodies in patients with Wiskott-Aldrich syndrome Journal Article

J Allergy Clin Immunol, 142 (5), pp. 1605–1617, 2018.

BibTeX

2016

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

Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects Journal Article

The Journal of Experimental Medicine, 213 (3), pp. 355–375, 2016, ISSN: 1540-9538.

Abstract | Links | BibTeX

2015

Pala, Francesca; Morbach, Henner; Castiello, Maria Carmina; Schickel, Jean-Nicolas; Scaramuzza, Samantha; Chamberlain, Nicolas; Cassani, Barbara; Glauzy, Salome; Romberg, Neil; Candotti, Fabio; Aiuti, Alessandro; Bosticardo, Marita; Villa, Anna; Meffre, Eric

Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients Journal Article

The Journal of Clinical Investigation, 125 (10), pp. 3941–3951, 2015, ISSN: 1558-8238.

Abstract | Links | BibTeX

2013

Prete, F; Catucci, M; Labrada, M; Gobessi, S; Castiello, M C; Bonomi, E; Aiuti, A; Vermi, W; Cancrini, C; Metin, A; Hambleton, S; Bredius, R; Notarangelo, L D; van der Burg, M; Kalinke, U; Villa, A; Benvenuti, F

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells Journal Article

J Exp Med, 210 (2), pp. 355–374, 2013.

BibTeX

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome Journal Article

Science, 341 (6148), pp. 1233151, 2013.

BibTeX

2012

Marrella, V; Poliani, P L; Fontana, E; Casati, A; Maina, V; Cassani, B; Ficara, F; Cominelli, M; Schena, F; Paulis, M; Traggiai, E; Vezzoni, P; Grassi, F; Villa, A

Anti-CĐ3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications Journal Article

Blood, 120 (5), pp. 1005–1014, 2012.

BibTeX

2000

Frattini, A; Orchard, P J; Sobacchi, C; Giliani, S; Abinun, M; Mattsson, J P; Keeling, D J; Andersson, A K; Wallbrandt, P; Zecca, L; Notarangelo, L D; Vezzoni, P; Villa, A

Đefects in ŦCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis Journal Article

Nat Genet, 25 (3), pp. 343–346, 2000.

BibTeX

1995

Villa, A; Notarangelo, L; Macchi, P; Mantuano, E; Cavagni, G; Brugnoni, D; Strina, D; Patrosso, M C; Ramenghi, U; Sacco, M G

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene Journal Article

Nat Genet, 9 (4), pp. 414–417, 1995.

BibTeX