The Year in Human and Medical Genetics

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 volume provides an overview of the field of medical genetics and its progress in 2011.

This volume focuses on new developments in “primary immunodeficiencies" (PIDs), insights into PID pathophysiology, and PIDs in India and the Middle East.Volume I opens with a dialog between the volume editors on the definition of PIDs; additional papers in this volume focus on PIDs in Latin America, Eastern and Central Europe, North Africa, Turkey, Asia, Iran, and the South Pacific.

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The establishment of early B cell tolerance in humans : lessons from primary immunodeficiency diseases / Eric Meffre

Checkpoints of B cell differentiation : visualizing Ig-centric processes / Magdalena A. Berkowska [and others]

DOCK8 deficiency / Helen C. Su, Huie Jing, and Qian Zhang

Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome / Yoshiyuki Minegishi and Masako Saito

Perspectives on common variable immune deficiency / Joon H. Park, Elena S. Resnick, and Charlotte Cunningham-Rundles

DNA repair : the link between primary immunodeficiency and cancer / Noel FCC de Miranda, Andrea Björkman, and Qiang Pan-Hammarström

Inherited defects causing hemophagocytic lymphohistiocytic syndrome / Geneviève de Saint Basile, Gaël Ménasché, and Sylvain Latour

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy : known and novel aspects of the syndrome / Kai Kisand and Pärt Peterson

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases / Jacinta Bustamante [and others]

IL-10 and IL-10 receptor defects in humans / Erik-Oliver Glocker . [and others]

The case for newborn screening for severe combined immunodeficiency and related disorders / Jennifer M. Puck

Newborn screening for primary immunodeficiencies : beyond SCID and XLA / Stephan Borte [and others]

Homologous recombination-based gene therapy for the primary immunodeficiencies / Matthew Porteus

Jean-Laurent Casanova is the editor of The Year in Human and Medical Genetics: Inborn Errors of Immunity II, Volume 1242, published by Wiley. Mary Ellen Conley is the editor of The Year in Human and Medical Genetics: Inborn Errors of Immunity II, Volume 1242, published by Wiley.