The Year in Human and Medical Genetics
Inborn Errors of Immunity I, Volume 1238
Annals of the New York Academy of Sciences
1. Edition February 2012
252 Pages, Softcover
Wiley & Sons Ltd
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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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 / La´´szlo´ Maro´di, 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]
