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Pathogenesis and therapy of primary immunodeficiencies

SR-Tiget Unit
Alessandro Aiuti, Clinical Research Coordinator and Head of Unit

Primary immunodeficiencies are a group of rare genetic diseases characterized by an altered innate and adaptive immune system, increased susceptibility to infections, risk of autoimmunity and cancer. Adenosine deaminase (ADA)- deficient severe combined immunodeficiency (SCID) is a complex metabolic and immunological disorder, characterized by a severe immunodeficiency due to the accumulation of purine metabolites in plasma and cells. Without treatment, the condition is fatal and requires early intervention. Our studies are aimed at investigating the molecular and cellular mechanisms linking the purine metabolism disorder to the immune and non-immune alterations of the disease. SR-Tiget was one of the pioneers in bringing gene therapy with retrovirally transduced hematopoietic stem cells from preclinical studies to successful clinical applications. Studies on vector integrations are providing crucial information on vector biology, the dynamics of genetically modified hematopoietic stem cells, and the safety of gene therapy. In addition, we are developing new therapeutic strategies based on the use of lentiviral vectors for ADA-SCID and other primary immunodeficiencies, including Wiskott-Aldrich Syndrome and Chronic Granulomatous Disease. These studies will contribute to improve our knowledge on primary immunodeficiencies and improve patients’ care.

Curriculum vitae


  • 1998   National Board of Hematology, University of Milan
  • 1996   Ph.D. in Molecular and Cell Biology, University of Rome “La Sapienza”
  • 1990   M.D., University of Rome “La Sapienza”

Scientific career

  • 2014-present Chief of Clinic, Pediatric Immunohematology Unit, San Raffaele Hospital, Milan, Italy
  • 2014-present Associate Professor of Pediatrics “Vita-Salute” San Raffaele University, Milan
  • 2011-present   Head, Pediatric Clinical Research Unit, SR-Tiget, Milan
  • 2009-present  Coordinator of clinical research, SR-Tiget, Milan
  • 2007-present Head of Unit on “Pathogenesis and gene therapy of ADA-SCID”,San Raffaele Hospital
  • 2007-2014   Associate Professor of Pediatrics, University of Rome “Tor Vergata”
  • 2003-2007   Head of Research Unit, San Raffaele Scientific Institute, Milan
  • 2000-2014   Hematologist, Pediatric Clinical Research Unit (SR-Tiget) and Pediatric Immunohematology, San Raffaele Scientific Institute
  • 2000-2007   M.D. Research Scientist, San Raffaele Scientific Institute, Milan
  • 1997-2000   Research Scientist, Telethon Foundation, Italy
  • 1996-1997   Post-Doctoral Fellow, SR-Tiget, San Raffaele Scientific Institute, Milan
  • 1991-1995   Ph.D. Student, University of Rome

He initially focused his research studying diseases of the coagulation and HIV infection. His research on hematopoietic stem cells led to the discovery of the first chemokine produced by bone marrow cells inducing migration of human hematopoietic stem cells. His current research is focused on pediatric hematology and immunology and specifically on primary immunodeficiencies, genetic diseases of the immune system. He pioneered the successful gene therapy clinical trial for SCID patients that lack adenosine deaminase (ADA), a fatal disorder of purine metabolism and immunodeficiency. This clinical trial, now completed, introduced a conditioning regimen to favor the engraftment of gene corrected cells and is considered to be among the most important clinical result of gene therapy for genetic diseases. Gene therapy for ADA SCID has been designated as Orphan Drug in Europe and USA. His most recent research with hematopoietic stem cells transduced with lentiviral vectors led to the successful application of therapy for another primary immunodeficiency, Wiskott-Aldrich syndrome. He is author of more than 100 publications in international peer-review journals and 5 book chapters. He gave more than 200 lectures as invited speaker and abstract presentations to national and international congresses. He received several national and international awards for his scientific activity and is a member of several national and international scientific societies His research is funded by international and national agencies including the European Union, Telethon Foundation, the Italian Ministry of Education University and Research, Italian Ministry of Health, Fondazione Roma.

Awards and honors

  • 2014: National Award “Cultura della Solidarietà” for an outstanding activity in science, which has granted so many benefits to human being
  • 2010: Award from AACS of Rome – Special Mention “Heart of Rome”
  • 2010: XVIIIth ESGCT Meeting: Award for an outstanding career and pioneering contributions to the field
  • 2009: HSR Scientific Retreat: Best paper award in translational medicine
  • 2004: JOUAN Biotherapy Award for the best clinical research project
  • 2003: Young Investigator Award, American Society of Gene Therapy
  • 2002: Top abstract presented at the Plenary Session of the American Society of Gene Therapy
  • 1996: Travel Award from the American Society of Hematology for presenting an oral communication at the ASH annual meeting in San Diego
  • 1993: Winner of a fellowship from the Italian Ministry of Health for scientists working on AIDS research in a foreign country
  • 1991: Award from the Istituto Pasteur Fondazione Cenci Bolognetti, University of Rome “La Sapienza”, for the best experimental thesis on basic sciences in year
  • 1989: Award from the University of Rome and the Fondazione Sigma Tau for the best research work on basic sciences


Member of the American Society of Hematology (ASH), American Society of Gene and Cell Therapy (ASGCT), European Society of Gene and Cell Therapy (ESGCT), Italian Society of Pediatrics (SIP), Italian Society of Pediatric Oncology and Hematology (AIEOP), European Society of Immunodeficiencies (ESID), Italian Strategic Committee on Primary Immunodeficiencies (AIEOP-IPINET), European Working Party on Inborn Errors (EBMT).

Professional activities

  • 2013-present: Chair of the ASGCT Hematologic and Immunologic Gene and Cell Therapy Committee
  • 2012-present: Member of ESGCT Board
  • 2011-present: Review Editor, Frontiers in Primary Immunodeficiencies
  • 2010-present: Member of the Board of the Italian Primary Immunodeficiency Network (IPINET)
  • 2011-2012: Member of the AIEOP Governing Council
  • 2008-2013: Member of the ASGCT Hemopoietic Cell Gene Therapy Committee
  • 2005-2009: Member of the Editorial Board, Human Gene Therapy
  • 1998-2003: Assistant European Editor, Human Gene Therapy

Institutional commitments

  • 2012-present: Ad hoc drafting group member of CAT (EMA)
  • 2010-2012: Italian Member of the Gene Therapy Working Party of European Medicines Agency (EMA)


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