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.

Volume I opens with a dialog between the volume editors on the definition of “primary immunodeficiencies (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. Volume II focuses on new developments in PIDs, insights into PID pathophysiology, and PIDs in India and the Middle East.

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Definition of primary immunodeficiency in 2011 : a "trialogue" among friends / Mary Ellen Conley, Luigi D. Notarangelo, and Jean-Laurent Casanova

Ten warning signs of primary immunodeficiency : a new paradigm is needed for the 21st century / Peter D. Arkwright and Andrew R. Gennery

Thirty years of primary immunodeficiencies in Turkey / Ozden Sanal and Ilhan Tezcan

The demographics of primary immunodeficiency diseases across the unique ethnic groups in Iran, and approaches to diagnosis and treatment / Nima Rezaei, Payam Mohammadinejad, and Asghar Aghamohammadi

Improving care, education, and research : the Asian primary immunodeficiency network / Pamela Pui-Wah Lee and Yu-Lung Lau

Primary immunodeficiencies in highly consanguineous North African populations / Mohamed-Ridha Barbouche [and others]

Primary immune deficiency disorders in the South Pacific : the clinical utility of a customized genetic testing program in New Zealand / Rohan Ameratunga [and others]

The creation and progress of the J Project in Eastern and Central Europe / Lá́szló Maródi, the J Project Study Group

Immunodeficiency due to defects in store-operated calcium entry / Stefan Feske

Type I interferonopathies : a novel set of inborn errors of immunity / Yanick J. Crow

Newborn screening for SCID : three years of experience / Nicole M. Chase, James W. Verbsky, and John M. Routes

Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease / Rebecca A. Marsh and Alexandra H. Filipovich

Hematopoietic stem cell transplantation for primary immunodeficiency diseases / Mary A. Slatter and Andrew J. Cant

Regulation of mucosal IgA responses : lessons from primary immunodeficiencies / Andrea Cerutti [and others]

Jean-Laurent Casanova is the editor of The Year in Human and Medical Genetics: Inborn Errors of Immunity I, Volume 1238, published by Wiley. Mary Ellen Conley is the editor of The Year in Human and Medical Genetics: Inborn Errors of Immunity I, Volume 1238, published by Wiley.