A. Villa

发表

Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1

Luigi Naldini, Michael C. Holmes, Chiara Bovolenta, 2017, Science Translational Medicine.

Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss

S. Mantero, A. Almarza, A. Villa, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Autonomous role of Wiskott‐Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation

L. Notarangelo, S. Giliani, S. Mantero, 2018, The Journal of allergy and clinical immunology.

Severe Combined Immunodeficiency in Greek Children over a 20-Year Period

S. Giliani, G. Chrousos, A. Villa, 2011, Journal of Clinical Immunology.

Characterization of a Novel Alu‐Alu Recombination‐Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients

S. Giliani, A. Villa, M. L. Cavaliere, 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Gene therapy for primary immunodeficiencies: Part 2.

M. Cavazzana‐Calvo, A. Villa, A. Aiuti, 2012, Current opinion in immunology.

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

L. Notarangelo, S. Giliani, A. Villa, 2000, Nature Genetics.

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

Luca Biasco, Alessandro Aiuti, Maria Grazia Valsecchi, 2013, Science.

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

E. Meffre, F. Candotti, M. C. Castiello, 2015, The Journal of clinical investigation.

Partial V(D)J Recombination Activity Leads to Omenn Syndrome

Sandro Santagata, Paolo Vezzoni, Silvia Giliani, 1998, Cell.

Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.

A. Villa, C. Sobacchi, P. Vezzoni, 2002, The Israel Medical Association journal : IMAJ.

Platelets in Wiskott‐Aldrich syndrome: Victims or executioners?

M. C. Castiello, A. Villa, L. Sereni, 2017, Journal of leukocyte biology.

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

S. Mantero, T. Hara, S. Duga, 2020, Molecular therapy. Methods & clinical development.

Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells

C. Recordati, E. Scanziani, A. Villa, 2019, Stem cells.

Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED)

P. Peterson, A. Villa, M. Bosticardo, 2016 .

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

L. Biasco, S. Galimberti, M. Valsecchi, 2019, The Lancet. Haematology.

B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome

M. van der Burg, L. Naldini, M. C. Castiello, 2015, The Journal of allergy and clinical immunology.

Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience

S. Giliani, A. Villa, M. Mostarica‐Stojković, 2014, Journal of Clinical Immunology.

Immune deficiencies , infection , and systemic immune disorders B-cell reconstitution after lentiviral vector – mediated gene therapy in patients with Wiskott-Aldrich syndrome

L. Naldini, M. Roncarolo, M. C. Castiello, 2022 .

Quantitation of the Rank-Rankl Axis in Primary Biliary Cholangitis

M. Roncalli, M. Gershwin, A. Villa, 2016, PloS one.

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome.

A. Villa, A. Aiuti, M. Bosticardo, 2009, Blood.

Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.

R. Boldrini, G. Dini, E. Lanino, 2003, The American journal of pathology.

Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.

C. Doglioni, L. Mollica, L. Dupré, 2010, The Journal of allergy and clinical immunology.

Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta: A New Target for Osteogenesis Imperfecta Pharmacological Therapy

R. Gioia, G. Merlini, A. Villa, 2012, Stem cells.

WASP regulates suppressor activity of human and murine CD4+CD25+FOXP3+ natural regulatory T cells

L. Notarangelo, M. Battaglia, L. Dupré, 2007, The Journal of experimental medicine.

NKp46-expressing human gut-resident intraepithelial Vδ1 T cell subpopulation exhibits high anti-tumor activity against colorectal cancer.

M. Roncalli, S. Danese, F. Dieli, 2019, JCI insight.

Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells.

L. Notarangelo, P. Peterson, P. L. Poliani, 2010, The American journal of pathology.

Osteopetroses and immunodeficiencies in humans

A. Villa, P. Vezzoni, A. Frattini, 2006, Current opinion in allergy and clinical immunology.

In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott–Aldrich Syndrome Protein-Deficient B Cells

E. Radaelli, P. L. Poliani, M. C. Castiello, 2017, Front. Immunol..

Severe Combined Immune Deficiency

L. Notarangelo, F. Candotti, A. Villa, 1978, Stiehm's Immune Deficiencies.

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

A. Schulz, L. Notarangelo, U. Kornak, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

B lymphocytes limit senescence‐driven fibrosis resolution and favor hepatocarcinogenesis in mouse liver injury

C. Recordati, S. Mantero, A. Villa, 2018, Hepatology.

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

A. Villa, B. Cassani, C. Sobacchi, 2008, Calcified Tissue International.

Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects

G. Pesole, R. Pedotti, J. Mora, 2016, The Journal of experimental medicine.

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

C. Pignata, C. Brombin, M. C. Castiello, 2019, The Journal of allergy and clinical immunology.

Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome

L. Notarangelo, J. Jonkers, F. Facchetti, 2000, Cancer Gene Therapy.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

M. Ferrari, A. Angius, A. Villa, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis

S. Mantero, J. Barnett, C. Carlo-Stella, 2020, Bone reports.

IL-10 Critically Modulates B Cell

P. L. Poliani, A. Villa, P. Vezzoni, 2015 .

IL-10 Critically Modulates B Cell Responsiveness in Rankl−/− Mice

P. L. Poliani, M. C. Castiello, A. Villa, 2015, The Journal of Immunology.

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

M. Roncarolo, P. L. Poliani, F. Sanvito, 2012, Blood.

Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration

S. Mantero, S. Sozzani, P. L. Poliani, 2013, Journal of leukocyte biology.

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

L. Notarangelo, P. Macchi, A. Villa, 1995, Nature Genetics.

Therapeutic Potential of Immunoproteasome Inhibition in Duchenne Muscular Dystrophy.

S. Bosari, C. Villa, Y. Torrente, 2016, Molecular therapy : the journal of the American Society of Gene Therapy.

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.

M. Karsdal, A. Schulz, J. Richter, 2013, Bone.

Wiskott–Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity

F. Granucci, M. C. Castiello, A. Villa, 2014, European journal of immunology.

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

M. van der Burg, L. Notarangelo, C. Cancrini, 2013, The Journal of experimental medicine.

Dendritic cell functional improvement in a preclinical model of lentiviral-mediated gene therapy for Wiskott-Aldrich syndrome

M. Roncarolo, M. C. Castiello, A. Villa, 2011, Gene Therapy.

Ablation of collagen VI leads to the release of platelets with altered function

A. Balduini, E. Pegoraro, F. Moccia, 2021, Blood advances.

The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function

A. Schulz, C. Cancrini, J. Litzman, 2009, The Journal of experimental medicine.

Editing T cell repertoire by thymic epithelial cell-directed gene transfer abrogates risk of type 1 diabetes development

A. Annoni, F. Sanvito, A. Villa, 2022, Molecular Therapy: Methods & Clinical Development.

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

L. Notarangelo, A. Ugazio, F. Candotti, 2014 .

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

L. Notarangelo, A. Ugazio, F. Candotti, 1998 .

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.

L. Notarangelo, F. Candotti, R. Cattaneo, 1998, Blood.

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

D. Lazarević, C. Pignata, S. Giliani, 2019, Front. Immunol..

Of Omenn and mice.

P. L. Poliani, A. Villa, C. Sobacchi, 2008, Trends in immunology.

RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease

A. Villa, P. Vezzoni, H. Blair, 2013, Clinical & developmental immunology.

RANK-Dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations

A. Fischer, A. Schulz, A. Durandy, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form Due to RANKL Deficiency

A. Villa, P. Vezzoni, C. Sobacchi, 2007, Cell cycle.

Neutrophils drive type I interferon production and autoantibodies in patients with Wiskott‐Aldrich syndrome

L. Notarangelo, M. C. Castiello, A. Villa, 2018, The Journal of allergy and clinical immunology.

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

G. Damante, A. Villa, P. Vezzoni, 2011, Bone.

Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models.

K. Siminovitch, L. Naldini, C. Doglioni, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

The genetics of dominant osteopetrosis

A. Villa, P. Vezzoni, A. Frattini, 2005 .

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

R. Borgatti, G. Merlo, S. Mantero, 2018, Bone.

Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts

C. Recordati, L. Naldini, E. Scanziani, 2015, Stem cell reports.

Preclinical Safety and Efficacy of Human CD34+ Cells Transduced With Lentiviral Vector for the Treatment of Wiskott-Aldrich Syndrome

C. von Kalle, L. Biasco, L. Naldini, 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

Preclinical Safety and Efficacy of Human CD34+ Cells Transduced With Lentiviral Vector for the Treatment of Wiskott-Aldrich Syndrome.

C. von Kalle, L. Biasco, L. Naldini, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

Genetics of Osteopetrosis

A. Villa, C. Menale, E. Palagano, 2018, Current Osteoporosis Reports.

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

N. Bishop, A. Teti, A. Villa, 2007, Nature Genetics.

Ifosfamide in the Treatment of Malignant Epithelial Ovarian Tumors

A. Lissoni, A. Villa, R. Fruscio, 2003, Oncology.

Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development

L. Notarangelo, C. Cancrini, S. Bergante, 2019, Front. Immunol..

An analysis in human lymphomas of a Jα region involved in a C-MYCJα translocation; Relationship with TCR alpha, beta, and gamma rearrangements☆

I. Biunno, A. Villa, P. Vezzoni, 1988 .

Lack of TdT and Immunoglobulin and T-Cell Receptor Gene Rearrangements in Hodgkin's Disease

D. Delia, I. Biunno, C. Besana, 1987, The International journal of biological markers.

Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

L. Notarangelo, A. Flanagan, T. Young, 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Establishment and characterization of a new mammary adenocarcinoma cell line derived from MMTV neu transgenic mice

L. Gribaldo, C. Montagna, D. Barone, 2004, Breast Cancer Research and Treatment.

Malignant histiocytosis. A phenotypic and genotypic investigation.

F. Rilke, G. Cattoretti, A. Villa, 1990, The American journal of pathology.

Defective Expression of CD40 Ligand on T Cells Causes “X‐Linked Immunodeficiency with Hyper‐IgM (HIGM1)”

L. Notarangelo, S. Giliani, A. Ugazio, 1994, Immunological reviews.

Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia.

Katja G. Weinacht, L. Notarangelo, S. Holland, 2020, Blood advances.

A new familial sclerosing bone dysplasia

E. Chouery, A. Mégarbané, G. Lefranc, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

E. Chouery, A. Mégarbané, G. Lefranc, 2013, European journal of medical genetics.

Development of Central Nervous System Autoimmunity Is Impaired in the Absence of Wiskott-Aldrich Syndrome Protein

R. Pedotti, G. Constantin, P. L. Poliani, 2014, PloS one.

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

M. Roncarolo, A. Villa, A. Aiuti, 2009, Blood.

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

L. Notarangelo, S. Giliani, D. Umetsu, 2013 .

A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

W. Al-Herz, A. Villa, P. Vezzoni, 2012, Calcified Tissue International.

Murine Rankl−/− Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL‐Expressing Lentiviral Vector

C. Recordati, A. Martini, M. Sandri, 2017, Stem cells.

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.

J. Timmermans, A. Teti, A. Villa, 2007, The Journal of clinical investigation.

Autosomal recessive osteopetrosis: mechanisms and treatments

Valentina Capo, A. Villa, S. Penna, 2021, Disease models & mechanisms.

One Disease, Many Genes: Implications for the Treatment of Osteopetroses

Valentina Capo, A. Villa, E. Palagano, 2019, Front. Endocrinol..

CLCN7-Related Osteopetrosis

A. Schulz, U. Kornak, A. Villa, 2016 .

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene†

A. Villa, P. Vezzoni, C. Sobacchi, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation

A. Villa, P. Vezzoni, C. Sobacchi, 2008, Cytotechnology.

Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

A. Mégarbané, E. Lanino, G. Lefranc, 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome.

L. Naldini, M. Roncarolo, P. L. Poliani, 2011, The Journal of allergy and clinical immunology.

PBX1-directed stem cell transcriptional program drives tumor progression in myeloproliferative neoplasm

C. Peano, A. Villa, P. Vezzoni, 2021, Stem cell reports.

Osteoclast rich osteopetrosis due to defects in TCIRG1 gene.

Valentina Capo, A. Villa, M. Abinun, 2022, Bone.

In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment Defects

P. Schlesinger, A. Villa, H. Blair, 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Generation of Human Induced Pluripotent Stem Cell‐Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy

Wieslawa I. Mentzen, A. Gritti, V. Broccoli, 2016, Stem cells translational medicine.

Mesenchymal Stromal Cell‐Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl‐Deficient Osteopetrosis

S. Mantero, M. Sandri, A. Villa, 2018, Stem cells translational medicine.

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

L. Notarangelo, D. Scadden, Y. Yamazaki, 2020, The Journal of allergy and clinical immunology.

Choice of template delivery mitigates the genotoxic risk and adverse impact of editing in human hematopoietic stem cells

C. Brombin, L. Naldini, A. Kajaste-Rudnitski, 2022, Cell stem cell.

Wiskott–Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans☆

M. van der Burg, M. V. van Zelm, G. Driessen, 2014, Journal of autoimmunity.

Gene Modification and Three‐Dimensional Scaffolds as Novel Tools to Allow the Use of Postnatal Thymic Epithelial Cells for Thymus Regeneration Approaches

L. Naldini, M. Sandri, A. Villa, 2019, Stem cells translational medicine.

Osteopetrosis mimicking juvenile myelomonocytic leukemia

A. Villa, B. Florkin, C. Hoyoux, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Omenn Syndrome with Mutation in RAG1 Gene

A. Villa, K. Ouldim, I. Jaouad, 2008, Indian journal of pediatrics.

Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency

Valentina Capo, M. C. Castiello, A. Villa, 2020, Frontiers in Immunology.

Omenn syndrome: inflammation in leaky severe combined immunodeficiency.

L. Notarangelo, A. Villa, C. Roifman, 2008, The Journal of allergy and clinical immunology.

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

A. Fischer, S. Pittaluga, A. Schulz, 2020, The Journal of allergy and clinical immunology.

Defect of regulatory T cells in patients with Omenn syndrome.

L. Notarangelo, A. Plebani, R. Badolato, 2010, The Journal of allergy and clinical immunology.

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

L. Notarangelo, A. Villa, O. Delmonte, 2020, Blood.

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

Fabio Grassi, Elena Fontana, Paolo Vezzoni, 2012, Blood.

Genetically determined lymphopenia and autoimmune manifestations.

L. Notarangelo, A. Villa, F. Rucci, 2008, Current opinion in immunology.

A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.

L. Notarangelo, M. Cavazzana‐Calvo, M. Battaglia, 2007, The Journal of clinical investigation.

AIRE deficiency in thymus of 2 patients with Omenn syndrome.

A. Fischer, L. Notarangelo, R. Badolato, 2005, The Journal of clinical investigation.

RAG and RAG defects.

K. Schwarz, L. Notarangelo, A. Villa, 1999, Current opinion in immunology.

RAG‐dependent primary immunodeficiencies

A. Villa, P. Vezzoni, C. Sobacchi, 2006, Human mutation.

Autoimmunity in Wiskott–Aldrich Syndrome: An Unsolved Enigma

M. C. Castiello, A. Villa, M. Bosticardo, 2012, Front. Immun..

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

David Mellis, Evelina Mazzolari, Paolo Vezzoni, 2008, American journal of human genetics.

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

A. Villa, P. Vezzoni, P. Uva, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

J. Casanova, L. Notarangelo, J. Franco, 2018, Blood.

Tissue-specific sensitivity to AID expression in transgenic mouse models.

C. Montagna, F. Facchetti, A. Villa, 2006, Gene.

Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.

A. Villa, M. Ritelli, M. Colombi, 2020, Bone.

3D Bone Biomimetic Scaffolds for Basic and Translational Studies with Mesenchymal Stem Cells

A. Villa, C. Menale, E. Palagano, 2018, International journal of molecular sciences.

Osteopetrosis: genetics, treatment and new insights into osteoclast function

A. Schulz, A. Villa, C. Sobacchi, 2013, Nature Reviews Endocrinology.

NKG2A expression identifies a subset of human Vδ2 T cells exerting the highest antitumor effector functions.

G. Torzilli, A. Villa, É. Vivier, 2021, Cell reports.

Gut Microbiota–Host Interactions in Inborn Errors of Immunity

L. Notarangelo, A. Licari, G. Marseglia, 2021, International journal of molecular sciences.

RAGs and BUGS: An alliance for autoimmunity

A. Villa, Rosita Rigoni, B. Cassani, 2016, Gut microbes.

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

J. Vacher, V. Rajapurohitam, N. Chalhoub, 2003, Nature Medicine.

A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis

F. Salvi, A. Ferlini, A. Villa, 1994, Human mutation.

TCIRG1‐dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

G. Mortier, F. Pagani, A. Villa, 2004, Human mutation.

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

J. Johnston, L. Notarangelo, S. Giliani, 1995, Nature.

The microbiome and immunodeficiencies: Lessons from rare diseases.

S. Holland, A. Villa, Rosita Rigoni, 2019, Journal of autoimmunity.

Severe Combined Immunodeficiencies

L. Notarangelo, F. Candotti, A. Villa, 2014 .

18 q-syndrome and extraskeletal Ewing ' s sarcoma

J. M. García-Sagredo, A. Villa, M. Valtueña, 2004 .

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

L. Notarangelo, K. Dobbs, G. Wagemaker, 2017, The Journal of allergy and clinical immunology.

Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper‐IgM syndrome

V. Lougaris, A. Plebani, P. Rancoita, 2021, EMBO molecular medicine.

Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.

R. Sarwari, P. Cortés, O. Danos, 2014, The Journal of allergy and clinical immunology.

Correction of murine Rag2 severe combined immunodeficiency by lentiviral gene therapy using a codon-optimized RAG2 therapeutic transgene.

G. Wagemaker, P. L. Poliani, A. Thrasher, 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

RAG gene defects at the verge of immunodeficiency and immune dysregulation

L. Notarangelo, A. Villa, 2018, Immunological reviews.

Recombination activating gene and its defects

A. Villa, P. Vezzoni, C. Sobacchi, 2001, Current opinion in allergy and clinical immunology.

The rise of a microparadigm in oncology

A. Villa, P. Vezzoni, M. Pozzi, 1989 .

A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

W. Al-Herz, A. Villa, P. Vezzoni, 2012, Calcified Tissue International.

Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients

C. Cancrini, S. Bergante, M. Genua, 2021, Frontiers in Immunology.

A single‐center experience in 20 patients with infantile malignant osteopetrosis

L. Notarangelo, A. Villa, E. Mazzolari, 2009, American journal of hematology.

Successful Preclinical Development of Gene Therapy for Recombinase-Activating Gene-1-Deficient SCID

A. Schambach, M. van der Burg, J. V. van Dongen, 2020, Molecular therapy. Methods & clinical development.

Omenn's syndrome occurring in patients without mutations in recombination activating genes.

A. Gennery, B. Angus, A. Villa, 2005, Clinical immunology.

Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience

S. Giliani, A. Villa, M. Mostarica‐Stojković, 2014, Journal of Clinical Immunology.

Severe combined immune deficiencies due to defects of the common γ chain-JAK3 signaling pathway

J. O’Shea, F. Candotti, A. Villa, 2004, Springer Seminars in Immunopathology.

with a donor splice site mutation in the Jak3 gene Monocyte function in a severe combined immunodeficient patient

L. Notarangelo, A. Mantovani, M. Sironi, 2011 .

The genetic and biochemical basis of Omenn syndrome

Sandro Santagata, Paolo Vezzoni, S. Santagata, 2000, Immunological reviews.

Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency

A. Schulz, L. Notarangelo, C. Picard, 2021, Frontiers in Immunology.

The RANKL-RANK Axis: A Bone to Thymus Round Trip

A. Villa, C. Menale, C. Sobacchi, 2019, Front. Immunol..

Rag Defects and Thymic Stroma: Lessons from Animal Models

L. Notarangelo, P. L. Poliani, A. Villa, 2014, Front. Immunol..

Prenatal diagnosis of RAG‐deficient Omenn syndrome

L. Notarangelo, A. Villa, C. Sobacchi, 2000, Prenatal diagnosis.

Correcting inborn errors of immunity: From viral mediated gene addition to gene editing

Samuele Ferrari, M. C. Castiello, A. Villa, 2023, Seminars in immunology.

Osteopetrosis rescue upon RANKL administration to Rankl−/− mice: A new therapy for human RANKL‐dependent ARO

P. Kostenuik, S. Mantero, P. L. Poliani, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.

M. Bruzzone, A. Villa, A. Musio, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Omenn syndrome does not live by V(D)J recombination alone

A. Villa, Virginia Maina, V. Marrella, 2011, Current opinion in allergy and clinical immunology.

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

L. Notarangelo, S. Giliani, D. Umetsu, 2008, Blood.

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

P. Cortés, A. Villa, P. Vezzoni, 2010, The Journal of clinical investigation.

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

M. van der Burg, A. Gennery, A. Villa, 2007, Clinical immunology.

Damaging‐agent sensitivity of Artemis‐deficient cell lines

L. Notarangelo, S. Giliani, D. Delia, 2005, European journal of immunology.

Omenn Syndrome: A Disorder of Rag1 and Rag2 Genes

Sandro Santagata, Luigi D. Notarangelo, L. Notarangelo, 1999, Journal of Clinical Immunology.

RAG MUTATIONS IN SEVERE COMBINED IMMUNODEFICIENCY AND OMENN'S SYNDROME

K. Schwarz, A. Villa, 2000, Radiologic Clinics of North America.

The V(D)J recombination reaction: role of RAG1 and RAG2 In lymphocytes, the RAG1/RAG2 recombinase directs nucleolytic cleavage events through the recognition and synapsis of a pair of recombination signal sequences

L. Notarangelo, S. Santagata, A. Villa, 2022 .

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.

A. Villa, P. Uva, C. Menale, 2017, Bone.

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

D. Lazarević, C. Pignata, S. Giliani, 2019, Front. Immunol..

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

M. van der Burg, H. Wardemann, A. Rolink, 2010, The Journal of experimental medicine.

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

L. Notarangelo, A. Gennery, P. L. Poliani, 2009, Blood.

Chromosome transplantation as a novel approach for correcting complex genomic disorders

C. Recordati, E. Scanziani, A. Villa, 2015 .

TCIRG1-dependent autosomal recessive osteopetrosis: Analysis of 100 cases and detection of a recurrent genomic deletion

A. Villa, C. Sobacchi, A. Frattini, 2009 .

Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations

E. Lanino, I. Tezcan, S. Phadke, 2010, Human mutation.

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices.

L. Notarangelo, S. Holland, K. Dobbs, 2019, The Journal of allergy and clinical immunology.

MicroRNA-127-3p controls murine hematopoietic stem cell maintenance by limiting differentiation

Yulei N. Wang, M. Cleary, C. Carlo-Stella, 2019, Haematologica.

Impaired gastric acidification negatively affects calcium homeostasis and bone mass

G. Sauter, A. Schulz, R. Simon, 2009, Nature Medicine.

HyperIgE in hypomorphic recombination-activating gene defects.

Valentina Capo, M. C. Castiello, A. Villa, 2022, Current opinion in immunology.

Cardiac Thrombus in Omenn Syndrome

A. Villa, A. Meral, S. Kilic, 2005, Pediatric Cardiology.

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.

E. Chouery, A. Mégarbané, G. Lefranc, 2007, European journal of medical genetics.

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Andrea Superti-Furga, Paolo Vezzoni, B. Gener, 2014, Bone.

Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women

D. Reid, S. Ralston, A. Teti, 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Soluble Factors on Stage to Direct Mesenchymal Stem Cells Fate

A. Villa, C. Menale, E. Palagano, 2017, Front. Bioeng. Biotechnol..

Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.

Anne-Kathrin Kienzler, V. Lougaris, A. Plebani, 2014, The Journal of allergy and clinical immunology.

Specificity of the Rearrangements of the T-Cell Receptor Gamma Gene in Human Lymphomas

F. Rilke, I. Biunno, C. Besana, 1988, Tumori.

Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs

H. Erdjument-Bromage, P. Tempst, A. Aggarwal, 2012, The Journal of experimental medicine.

Omenn Syndrome: inflammation and autoimmunity

A. Villa, 2011, Journal of Translational Medicine.

Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts.

T. Ried, C. Montagna, A. Villa, 2003, Cancer research.

Inhibition of BUB 1 Results in Genomic Instability and Anchorage-independent Growth of Normal Human Fibroblasts 1

T. Ried, C. Montagna, A. Villa, 2003 .

Expanded circulating hematopoietic stem/ progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis

A. Schulz, C. Carlo-Stella, R. Cusano, 2020, Haematologica.

Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.

Wieslawa I. Mentzen, A. Gritti, V. Broccoli, 2016, Stem cells translational medicine.

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

L. Naldini, L. Dupré, M. Roncarolo, 2006 .

A novel peptide ‘T14’ reflects age and photo-aging in human skin

S. Greenfield, A. Villa, J. Harcup, 2023, Aging.

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants

G. Baynam, A. Kariminejad, A. Rehman, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Reply: To PMID 24332219.

O. Danos, P. L. Poliani, A. Villa, 2014, The Journal of allergy and clinical immunology.

MSC-Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl-De fi cient Osteopetrosis

S. Mantero, M. Sandri, A. Villa, 2018 .

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

E. Brooks, K. Schwarz, A. Villa, 2001, Blood.

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

A. Villa, M. Minegishi, A. Villa, 2001, Blood.

Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

A. Villa, J. Johnston, L. Notarangelo, 1997, Blood.

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

C. Patrosso, A. Villa, L. Notarangelo, 1994, Proceedings of the National Academy of Sciences of the United States of America.