A
Alberto G. Ugazio
Researcher at University of Brescia
Publications - 122
Citations - 8324
Alberto G. Ugazio is an academic researcher from University of Brescia. The author has contributed to research in topics: Severe combined immunodeficiency & Antigen. The author has an hindex of 35, co-authored 122 publications receiving 8050 citations. Previous affiliations of Alberto G. Ugazio include University of Pavia.
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Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Patrick Revy,Taro Muto,Yves Levy,Frederic Geissmann,Alessandro Plebani,Ozden Sanal,Nadia Catalan,Monique Forveille,Dufourcq-Lagelouse R,Andrew R. Gennery,Ilhan Tezcan,Fügen Ersoy,Hülya Kayserili,Alberto G. Ugazio,Nicole Brousse,Masamichi Muramatsu,Luigi D. Notarangelo,Kazuo Kinoshita,Tasuku Honjo,Alain Fischer,Anne Durandy +20 more
TL;DR: The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses.
Journal ArticleDOI
Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients
Claudio Bordignon,Luigi D. Notarangelo,Nadia Nobili,Giuliana Ferrari,Giulia Casorati,Paola Panina,Evelina Mazzolari,Daniela Maggioni,Claudia Rossi,Paolo Servida,Alberto G. Ugazio,Fulvio Mavilio +11 more
TL;DR: Results indicate successful gene transfer into long-lasting progenitor cells, producing a functional multilineage progeny.
Journal ArticleDOI
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
Ulf Korthäuer,Daniel Graf,Hans W. Mages,Francine Brière,M Padayachee,Sue Malcolm,Alberto G. Ugazio,Luigi D. Notarangelo,Roland J. Levinsky,Richard A. Kroczek +9 more
TL;DR: Evidence is presented that point mutations in the TRAP gene give rise to nonfunctional or defective expression of TRAP on the surface of T cells in patients with HIGM1, which is responsible for the observed immunoglobulin isotype defect in HIGm1.
Journal ArticleDOI
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
Simona Ferrari,Silvia Giliani,Antonella Insalaco,Abdulaziz Al-Ghonaium,Anna Rosa Soresina,Michael Loubser,Maria Antonietta Avanzini,M. Marconi,Raffaele Badolato,Alberto G. Ugazio,Yves Levy,Nadia Catalan,Anne Durandy,Abdelghani Tbakhi,Luigi D. Notarangelo,Alessandro Plebani +15 more
TL;DR: Findings show that mutations of the CD40 gene cause an autosomal recessive form of hyper IgM, which is immunologically and clinically undistinguishable from the X-linked form.
Journal ArticleDOI
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Anna Villa,Cristina Sobacchi,Luigi D. Notarangelo,Fabio Bozzi,Mario Abinun,Tore G. Abrahamsen,Peter D. Arkwright,Michal Baniyash,Edward G. Brooks,Mary Ellen Conley,Patricia Cortes,Marzia Duse,Anders Fasth,Alexandra M. Filipovich,Anthony J. Infante,Alison L Jones,Evelina Mazzolari,Susanna M. Müller,Srdjan Pasic,Gideon Rechavi,Maria Grazia Sacco,Sandro Santagata,Marlis L. Schroeder,Reinhard Seger,Dario Strina,Alberto G. Ugazio,Jouni Väliaho,Mauno Vihinen,Larry B. Vogler,Hans D. Ochs,Paolo Vezzoni,Wilhelm Friedrich,Klaus Schwarz +32 more
TL;DR: The clinical and immunologic phenotypes of patients bearing mutations in RAGs are more diverse than previously thought and that this variability is related, in part, to the specific type of RAG mutation.