Pediatric Immuno-Hematology and Transplantation

The Pediatric Immuno-Hematology Unit at Ospedale San Raffaele takes care of the diagnosis and treatment of pediatric patients affected by haematological, immunological and metabolic (with neurological involvement) diseases, with a particular focus on genetic disorders.

A highly specialized team with a long-standing experience in the diagnosis, research and cure of patients affected by genetic diseases is present in the Institution. The Unit is a National Referral Center for the diagnosis of pediatric immunodeficiences and other pediatric haematological disorders. The pediatric allogeneic hematopoietic stem cell transplant activity (from HLA-identical family donors) is conducted within the Stem Cell Program (Director: Dr. Fabio Ciceri). Our Unit has pioneered gene therapy treatment for primary immunodeficiencies (ADA-SCID, Wiskott-Aldrich Syndrome) and metachromatic leukodystrophy and other experimental treatments based on the infusion of gene-modified hematopoietic stem cells are under development. The clinical and research activities are testified by the high number of publications in peer-reviewed international scientific Journals.

Main conditions treated

  • Primary Immunodeficiencies
  • Children with recurrent infections
  • Autoimmune diseases due to genetic mutations
  • Anemia, including thalassemia and sickle-cell anemia
  • Thrombocytopenia
  • Neutropenia
  • Metabolic disorders with neurological involvement

Research

The following research lines are active in collaboration with TIGET.

  • Pediatric Immunology: diagnosis, pathogenesis and cure of congenital immunodeficiencies; gene therapy for the severe combined immunodeficiency ADA-SCID and for Wiskott-Aldrich syndrome (Phase I/II clinical study). Gene therapy for Chronic Granulomatous Disease and SCID-X1 (research projects). Study of genetic disorders with immune-dysregulation (IPEX and IPEX-like).
  • Pediatric Hematology: gene therapy for beta-thalassemia (Phase I-II clinical starting in 2015); gene therapy for Haemophilia (research project).
  • Metabolic Disorders: neurodegenerative lysosomal disorders, including gene therapy for Metachromatic Leukodystrophy (Phase I-II clinical study), type I Mucopolysaccharidosis (Phase I-II clinical study to be conducted in 2015) and Globoid Leukodystrophy (research project).

Technology

Patients are taken care of all medical and psychological aspects thanks to a multidisciplinary team which bares also on the collaboration with the General Pediatrics Unit and all other consultants in the Hospital. We have been following several pediatric patients from around the world. We adopt all the standard diagnostic and therapeutic protocols of the Italian Association for Pediatric Hematology and Oncology (AIEOP), the Italian Network for Primary Immunodeficiencies (IPINET) and the European Blood and Marrow Transplant Group (EBMT). The Hospital Laboratories have advanced and high-quality techniques and instruments for the diagnosis and precise characterization of immunological and haematological defects, based on flow-cytometry, genetic assays, as well as functional assays.

Staff

Prof. Alessandro Aiuti is Head of Pediatric Immuno-Hematology Unit and Associate Professor of Pediatrics, University Vita–Salute San Raffaele. Alessandra Biffi, head of the Unit for metabolic disease treatment and contract Professor of University Vita–Salute San Raffaele; Maria Pia Cicalese, responsible for paediatric autologous transplant; Maria Ester Bernardo, responsible for allogeneic pediatric bone marrow transplant; Andrea Assanelli, Senior Hematologist; Maddalena Migliavacca, Pediatrician; Francesca Ferrua, Pediatrician; Francesca Fumagalli, Neurologist; Clara Soliman, Nurse Coordinator; Miriam Casiraghi, Research Nurse; Gigliola Antonioli, Research Nurse. Six resident fellows in Pediatrics are also working in our Unit.