Annals

The Year in Human and Medical Genetics (2)

Edited by Edited by Jean-Laurent Casanova (The Rockefeller University, New York, New York), Mary Ellen Conley (St. Jude Children's Research Hospital, Memphis, Tennessee), and Luigi Notarangelo (Harvard University, Boston, Massachusetts)
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The Year in Human and Medical Genetics (2)

Published: February 2012

Volume 1250

Reviews chronicling the rapid expansion of research examining the genetic basis of human primary immunodeficiency, including novel treatments and improving global access to care.
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The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. The present volume attempts to provide an overview of the field and its progress in 2011.