Luigi Notarangelo MD

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Luigi Notarangelo, MD

Luigi D. Notarangelo, MD, is a world renowned immunologist and a pre-eminent investigator of the Primary Immunodeficiency Diseases (PIDs), which are inherited, gene-based defects of the immune system that compromise a child's ability to fight off common infections.

Each year Children's Hospital cares for 2,000 children affected by PID, making it the largest clinical site in the nation for the diagnosis and care of children with these rare disorders. The expertise of Dr. Notarangelo and his colleagues draws patients from around the world.

Children's immunologists are leaders in PID research, with an impressive record of "firsts." In the 1990s Dr. Notarangelo discovered Jak3 deficiency as the basis of non X-linked severe combined immunodeficiency. He also discovered combined immunodeficiency due to CD40 deficiency, and found that defects of CXCR4 cause WHIM syndrome, yet another immunodeficiency. Children's research teams also identified the genetic bases of four other PIDs.

PID treatment involves a thorough knowledge of infectious diseases, gamma globulin replacement, treatment with recombinant molecules and stem cell transplantation. In recent years, Dr. Notarangelo has pioneered much of this work. In particular, he has shown that bone marrow transplantation from matched unrelated, volunteer donors can permanently cure as many as 80% of the infants with SCID, an otherwise inevitably lethal group of disorders. He has also been the first to exploit the use of stem cell transplantation for correction of human severe immune deficiencies in utero.

Going forward, we expect new treatment strategies to be based on gene therapy and nuclear transfer approaches. To make continued progress against PID will require exceptionally strong and diverse cross-disciplinary teams. Fortunately, such collaborations are a hallmark of Children's entire scientific enterprise. The Manton Center for Orphan Disease Research will allow us to address the most pressing research priorities, and help children suffering from complex and frightening illnesses.

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