Proceedings of the National Academy of Sciences of the United States of America

About the PNAS Member Editor
Name Buckley, Rebecca H.
Location Duke University
Primary Field Immunology and Inflammation
Secondary Field Medical Genetics, Hematology and Oncology
 Research Interests
As a human immunologist, my research interests have been in the fundamental causes of genetically-determined immunodeficiency diseases. I was the first to describe the autosomal dominant form of the Hyper IgE syndrome. For the past 30 years my research has focused on the syndrome of severe combined immunodeficiency (SCID) and the longterm clinical and immunologic outcomes of nonablative T cell-depleted parental bone marrow transplants. During this time, mutations in at least 13 genes that result in this syndrome have been defined. Since no pre-transplant chemoablation is needed (because all molecular types of SCID have no T cells), the marrow stem cells are infused into an unmanipulated microenvironment. Because the haploidentical marrow is rigorously T cell-depleted, the SCID recipients do not need immunosuppressive drugs (which could affect immune cell development) after the transplant. These infants have served as an invaluable model for examining the kinetics of human T, B and NK cell development from donor stem cells, MHC restriction, tolerance induction and longterm thymic output. For the past one and half decades I have advocated newborn screening for SCID, and the Secretary of HHS officially recommended this in May of 2010. I am the author or co-author of 315 scientific publications.

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