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The Year in Human and Medical Genetics

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 (Children's Hospital, Harvard University, Boston, Massachusetts)
The Year in Human and Medical Genetics

Published: December 2011

Volume 1246

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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. Volume II of this three-part series includes papers on new concepts of some older primary immunodeficiency diseases (PIDs), early diagnosis of PIDs, and insights into PID pathophysiology.