Anna Villa

@article{pmid32387109,

title = {Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency},

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

year  = {2021},

date = {2021-01-01},

journal = {J Allergy Clin Immunol},

volume = {147},

number = {1},

pages = {309--320},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31949009,

title = {Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of ŦCIRG1 osteopetrosis},

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

year  = {2021},

date = {2021-01-01},

journal = {Haematologica},

volume = {106},

number = {1},

pages = {74--86},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32311393,

title = {Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome},

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

year  = {2020},

date = {2020-11-01},

journal = {J Allergy Clin Immunol},

volume = {146},

number = {5},

pages = {1165--1179},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31942628,

title = {Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency},

author = {O M Delmonte and A Villa and L D Notarangelo},

year  = {2020},

date = {2020-01-01},

journal = {Blood},

volume = {135},

number = {9},

pages = {610--619},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30981783,

title = {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},

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

year  = {2019},

date = {2019-05-01},

journal = {Lancet Haematol},

volume = {6},

number = {5},

pages = {e239-e253},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30926529,

title = {Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome},

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

year  = {2019},

date = {2019-01-01},

journal = {J Allergy Clin Immunol},

volume = {144},

number = {3},

pages = {825--838},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30565244,

title = {RAG gene defects at the verge of immunodeficiency and immune dysregulation},

author = {A Villa and L D Notarangelo},

year  = {2019},

date = {2019-01-01},

journal = {Immunol Rev},

volume = {287},

number = {1},

pages = {73--90},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid29241731,

title = {Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation},

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

year  = {2018},

date = {2018-01-01},

journal = {J Allergy Clin Immunol},

volume = {142},

number = {3},

pages = {928--941},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid29421274,

title = {Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation},

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

year  = {2018},

date = {2018-01-01},

journal = {J Allergy Clin Immunol},

volume = {142},

number = {4},

pages = {1272--1284},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid29447842,

title = {Neutrophils drive type I interferon production and autoantibodies in patients with Wiskott-Aldrich syndrome},

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

year  = {2018},

date = {2018-01-01},

journal = {J Allergy Clin Immunol},

volume = {142},

number = {5},

pages = {1605--1617},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{rigoni_intestinal_2016,

title = {Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects},

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

doi = {10.1084/jem.20151116},

issn = {1540-9538},

year  = {2016},

date = {2016-03-01},

journal = {The Journal of Experimental Medicine},

volume = {213},

number = {3},

pages = {355--375},

abstract = {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 Rag2(R229Q) knock-in mice developed an inflammatory bowel disease affecting both the small bowel and colon. Lymphocytes were sufficient for disease induction, as intestinal CD4 T cells with a Th1/Th17 phenotype reproduced the pathological picture when transplanted into immunocompromised hosts. Moreover, oral tolerance was impaired in Rag2(R229Q) mice, and transfer of wild-type (WT) regulatory T cells ameliorated bowel inflammation. Mucosal immunoglobulin A (IgA) deficiency in the gut resulted in enhanced absorption of microbial products and altered composition of commensal communities. The Rag2(R229Q) microbiota further contributed to the immunopathology because its transplant into WT recipients promoted Th1/Th17 immune response. Consistently, long-term dosing of broad-spectrum antibiotics (ABXs) in Rag2(R229Q) mice ameliorated intestinal and systemic autoimmunity by diminishing the frequency of mucosal and circulating gut-tropic CCR9(+) Th1 and Th17 T cells. Remarkably, serum hyper-IgE, a hallmark of the disease, was also normalized by ABX treatment. These results indicate that intestinal microbes may play a critical role in the distinctive immune dysregulation of OS.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pala_lentiviral-mediated_2015,

title = {Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients},

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

doi = {10.1172/JCI82249},

issn = {1558-8238},

year  = {2015},

date = {2015-10-01},

journal = {The Journal of Clinical Investigation},

volume = {125},

number = {10},

pages = {3941--3951},

abstract = {Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by microthrombocytopenia, eczema, and high susceptibility to developing tumors and autoimmunity. Recent evidence suggests that B cells may be key players in the pathogenesis of autoimmunity in WAS. Here, we assessed whether WAS protein deficiency (WASp deficiency) affects the establishment of B cell tolerance by testing the reactivity of recombinant antibodies isolated from single B cells from 4 WAS patients before and after gene therapy (GT). We found that pre-GT WASp-deficient B cells were hyperreactive to B cell receptor stimulation (BCR stimulation). This hyperreactivity correlated with decreased frequency of autoreactive new emigrant/transitional B cells exiting the BM, indicating that the BCR signaling threshold plays a major role in the regulation of central B cell tolerance. In contrast, mature naive B cells from WAS patients were enriched in self-reactive clones, revealing that peripheral B cell tolerance checkpoint dysfunction is associated with impaired suppressive function of WAS regulatory T cells. The introduction of functional WASp by GT corrected the alterations of both central and peripheral B cell tolerance checkpoints. We conclude that WASp plays an important role in the establishment and maintenance of B cell tolerance in humans and that restoration of WASp by GT is able to restore B cell tolerance in WAS patients.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid23337808,

title = {Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells},

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

year  = {2013},

date = {2013-02-01},

journal = {J Exp Med},

volume = {210},

number = {2},

pages = {355--374},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid23845947b,

title = {Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome},

year  = {2013},

date = {2013-01-01},

journal = {Science},

volume = {341},

number = {6148},

pages = {1233151},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid22723555,

title = {Anti-CĐ3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications},

author = {V Marrella and P L Poliani and E Fontana and A Casati and V Maina and B Cassani and F Ficara and M Cominelli and F Schena and M Paulis and E Traggiai and P Vezzoni and F Grassi and A Villa},

year  = {2012},

date = {2012-01-01},

journal = {Blood},

volume = {120},

number = {5},

pages = {1005--1014},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid10888887,

title = {Đefects in ŦCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis},

author = {A Frattini and P J Orchard and C Sobacchi and S Giliani and M Abinun and J P Mattsson and D J Keeling and A K Andersson and P Wallbrandt and L Zecca and L D Notarangelo and P Vezzoni and A Villa},

year  = {2000},

date = {2000-07-01},

journal = {Nat Genet},

volume = {25},

number = {3},

pages = {343--346},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid7795648,

title = {X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene},

author = {A Villa and L Notarangelo and P Macchi and E Mantuano and G Cavagni and D Brugnoni and D Strina and M C Patrosso and U Ramenghi and M G Sacco},

year  = {1995},

date = {1995-01-01},

journal = {Nat Genet},

volume = {9},

number = {4},

pages = {414--417},

keywords = {},

pubstate = {published},

tppubtype = {article}

}