The year in human and medical genetics
Subtitle: inborn errors of immunity I
By: issue editors, Jean-Laurent Casanova, Mary Ellen Conley, Luigi Notarangelo
Contributors: New York Academy of Sciences
Series: Annals of the New York Academy of Sciences -- v. 1238; Annals of the New York Academy of Sciences -- v. 1238.
Publisher: Published by Blackwell Pub. on behalf of the New York Academy of Sciences
Published: 2011
Place of publication: Boston, Mass
Language: eng
Number of pages: 144
ISBN-13: 9781573318495
Subjects: Genetics; Human genetics; Immunological deficiency syndromes; Immunodeficiency; Immunologic Deficiency Syndromes; Genetic disorders; Medical genetics; Genetic aspects; Medical Genetics; Inborn Genetic Diseases
Other titles: Inborn errors of immunity I; Inborn errors of immunity one
Description: 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--
Notes: Cover title.

Includes bibliographical references.
Table of contents: title: Definition of primary immunodeficiency in 2011 : a "trialogue" among friends / Mary Ellen Conley, Luigi D. Notarangelo, and Jean-Laurent Casanova; title: Ten warning signs of primary immunodeficiency : a new paradigm is needed for the 21st century / Peter D. Arkwright and Andrew R. Gennery; title: Thirty years of primary immunodeficiencies in Turkey / Ozden Sanal and Ilhan Tezcan; title: 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; title: Improving care, education, and research : the Asian primary immunodeficiency network / Pamela Pui-Wah Lee and Yu-Lung Lau; title: Primary immunodeficiencies in highly consanguineous North African populations / Mohamed-Ridha Barbouche ... [et al.]; title: Primary immune deficiency disorders in the South Pacific : the clinical utility of a customized genetic testing program in New Zealand / Rohan Ameratunga ... [et al.]; title: The creation and progress of the J Project in Eastern and Central Europe / Lá́szló Maródi, the J Project Study Group; title: Immunodeficiency due to defects in store-operated calcium entry / Stefan Feske; title: Type I interferonopathies : a novel set of inborn errors of immunity / Yanick J. Crow; title: Newborn screening for SCID : three years of experience / Nicole M. Chase, James W. Verbsky, and John M. Routes; title: Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease / Rebecca A. Marsh and Alexandra H. Filipovich; title: Hematopoietic stem cell transplantation for primary immunodeficiency diseases / Mary A. Slatter and Andrew J. Cant; title: Regulation of mucosal IgA responses : lessons from primary immunodeficiencies / Andrea Cerutti ... [et al.].