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Journal Articles

Towards Clinical Translation of Hematopoietic Cell Gene Editing for Treating Hyper-IgM Type 1

Valentina Vavassori, Elisabetta Mercuri, Genni Marcovecchio, Maria Carmina Castiello, Daniele Canarutto, Claudia Asperti, Aurelien Jacob, Luisa Albano, Elena Fontana, Eugenio Scanziani, Marina Radrizzani, Anna Villa, Pietro Genovese, Luigi Naldini

Blood (2021) 138 (Supplement 1): 3978.

https://doi.org/10.1182/blood-2021-148572

Published: 2021

Journal Articles

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

Ottavia M. Delmonte, Anna Villa, Luigi D. Notarangelo

Blood (2020) 135 (9): 610–619.

https://doi.org/10.1182/blood.2019000923

Published: 2020

Journal Articles

Lentiviral Hematopoietic Stem and Progenitor Cell Gene Therapy for Wiskott-Aldrich Syndrome (WAS): Up to 8 Years of Follow up in 17 Subjects Treated Since 2010

Blood (2019) 134 (Supplement_1): 3346.

https://doi.org/10.1182/blood-2019-124665

Published: 2019

Journal Articles

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Blood (2018) 132 (22): 2362–2374.

https://doi.org/10.1182/blood-2018-07-863431

Published: 2018

Includes: Supplemental data

Journal Articles

Safety and Clinical Benefit of Lentiviral Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome

Blood (2015) 126 (23): 259.

https://doi.org/10.1182/blood.V126.23.259.259

Published: 2015

Journal Articles

Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications

Veronica Marrella, Pietro L. Poliani, Elena Fontana, Anna Casati, Virginia Maina, Barbara Cassani, Francesca Ficara, Manuela Cominelli, Francesca Schena, Marianna Paulis, Elisabetta Traggiai, Paolo Vezzoni, Fabio Grassi, Anna Villa

Blood (2012) 120 (5): 1005–1014.

https://doi.org/10.1182/blood-2012-01-406827

Published: 2012

Includes: Supplemental data

Journal Articles

Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID

Aisha V. Sauer, Immacolata Brigida, Nicola Carriglio, Raisa Jofra Hernandez, Samantha Scaramuzza, Daniela Clavenna, Francesca Sanvito, Pietro L. Poliani, Nicola Gagliani, Filippo Carlucci, Antonella Tabucchi, Maria Grazia Roncarolo, Elisabetta Traggiai, Anna Villa, Alessandro Aiuti

Blood (2012) 119 (6): 1428–1439.

https://doi.org/10.1182/blood-2011-07-366781

Published: 2012

Includes: Supplemental data

Journal Articles

Genetic and Clinical Spectrum of Osteopetrosis.

Ansgar S Schulz, MD, Despina Moshous, MD, Klaus-Michael Debatin, MD, Anna Villa

Blood (2009) 114 (22): 1087.

https://doi.org/10.1182/blood.V114.22.1087.1087

Published: 2009

Journal Articles

ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency

Aisha V. Sauer, Emanuela Mrak, Raisa Jofra Hernandez, Elena Zacchi, Francesco Cavani, Miriam Casiraghi, Eyal Grunebaum, Chaim M. Roifman, Maria C. Cervi, Alessandro Ambrosi, Filippo Carlucci, Maria Grazia Roncarolo, Anna Villa, Alessandro Rubinacci, Alessandro Aiuti

Blood (2009) 114 (15): 3216–3226.

https://doi.org/10.1182/blood-2009-03-209221

Published: 2009

Includes: Supplemental data

Journal Articles

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

Pietro Luigi Poliani, Fabio Facchetti, Maria Ravanini, Andrew Richard Gennery, Anna Villa, Chaim M. Roifman, Luigi D. Notarangelo

Blood (2009) 114 (1): 105–108.

https://doi.org/10.1182/blood-2009-03-211029

Published: 2009

Includes: Supplemental data

Journal Articles

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome

Marita Bosticardo, Francesco Marangoni, Alessandro Aiuti, Anna Villa, Maria Grazia Roncarolo

Blood (2009) 113 (25): 6288–6295.

https://doi.org/10.1182/blood-2008-12-115253

Published: 2009

Journal Articles

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

Ponpan Matangkasombut, Muriel Pichavant, Doris E. Saez, Silvia Giliani, Evelina Mazzolari, Andrea Finocchi, Anna Villa, Cristina Sobacchi, Patricia Cortes, Dale T. Umetsu, Luigi D. Notarangelo

Blood (2008) 111 (1): 271–274.

https://doi.org/10.1182/blood-2007-06-096487

Published: 2008

Includes: Supplemental data

Journal Articles

Evidence for Efficacy and Safety of Lentiviral Mediated Gene Transfer in T Cells and CD34+ Cells from Wiskott-Aldrich Syndrome Patients.

Samantha Scaramuzza, Sara Trifari, Francesco Marangoni, Silvana Martino, Ayse Metin, Anne Galy, Luigi Naldini, Alessandro Aiuti, Anna Villa, Loic Dupré, Maria Grazia Roncarolo

Blood (2006) 108 (11): 3279.

https://doi.org/10.1182/blood.V108.11.3279.3279

Published: 2006

Journal Articles

Identification of anti–herpes simplex virus antibody–producing B cells in a patient with an atypical RAG1 immunodeficiency

Satoru Kumaki, Anna Villa, Hiroshi Asada, Shin Kawai, Yoshiyuki Ohashi, Miyoko Takahashi, Ikuko Hakozaki, Etsuko Nitanai, Masayoshi Minegishi, Shigeru Tsuchiya

Blood (2001) 98 (5): 1464–1468.

https://doi.org/10.1182/blood.V98.5.1464

Published: 2001

Journal Articles

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

Blood (2001) 97 (1): 81–88.

https://doi.org/10.1182/blood.V97.1.81

Published: 2001

Journal Articles

Intrathymic Restriction and Peripheral Expansion of the T-Cell Repertoire in Omenn Syndrome

Simona Signorini, Luisa Imberti, Silvia Pirovano, Anna Villa, Fabio Facchetti, Marco Ungari, Fabio Bozzi, Alberto Albertini, Alberto G. Ugazio, Paolo Vezzoni, Luigi D. Notarangelo

Blood (1999) 94 (10): 3468–3478.

https://doi.org/10.1182/blood.V94.10.3468.422k34_3468_3478

Published: 1999

Journal Articles

Development of Autologous, Oligoclonal, Poorly Functioning T Lymphocytes in a Patient With Autosomal Recessive Severe Combined Immunodeficiency Caused by Defects of the Jak3 Tyrosine Kinase

Duilio Brugnoni, Luigi D. Notarangelo, Alessandra Sottini, Paolo Airò, Marta Pennacchio, Evelina Mazzolari, Simona Signorini, Fabio Candotti, Anna Villa, Patrizia Mella, Paolo Vezzoni, Roberto Cattaneo, Alberto G. Ugazio, Luisa Imberti

Blood (1998) 91 (3): 949–955.

https://doi.org/10.1182/blood.V91.3.949

Published: 1998

Journal Articles

Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency

Fabio Candotti, Scott A. Oakes, James A. Johnston, Silvia Giliani, Richard F. Schumacher, Patrizia Mella, Maurilia Fiorini, Alberto G. Ugazio, Raffaele Badolato, Luigi D. Notarangelo, Fabio Bozzi, Paolo Macchi, Dario Strina, Paolo Vezzoni, R. Michael Blaese, John J. O'Shea, Anna Villa

Blood (1997) 90 (10): 3996–4003.

https://doi.org/10.1182/blood.V90.10.3996

Published: 1997

NARROW

Towards Clinical Translation of Hematopoietic Cell Gene Editing for Treating Hyper-IgM Type 1

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

Lentiviral Hematopoietic Stem and Progenitor Cell Gene Therapy for Wiskott-Aldrich Syndrome (WAS): Up to 8 Years of Follow up in 17 Subjects Treated Since 2010

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Safety and Clinical Benefit of Lentiviral Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome

Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications

Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID

Genetic and Clinical Spectrum of Osteopetrosis.

ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

Evidence for Efficacy and Safety of Lentiviral Mediated Gene Transfer in T Cells and CD34+ Cells from Wiskott-Aldrich Syndrome Patients.

Identification of anti–herpes simplex virus antibody–producing B cells in a patient with an atypical RAG1 immunodeficiency

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

Intrathymic Restriction and Peripheral Expansion of the T-Cell Repertoire in Omenn Syndrome

Development of Autologous, Oligoclonal, Poorly Functioning T Lymphocytes in a Patient With Autosomal Recessive Severe Combined Immunodeficiency Caused by Defects of the Jak3 Tyrosine Kinase

Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency

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American Society of Hematology

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American Society of Hematology

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