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J Allergy Clin Immunol. 2013 Feb;131(2):314-23. doi: 10.1016/j.jaci.2012.11.051.

Primary immunodeficiencies: a rapidly evolving story.

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  • 1Pediatric Infectious Diseases Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.


The characterization of primary immunodeficiencies (PIDs) in human subjects is crucial for a better understanding of the biology of the immune response. New achievements in this field have been possible in light of collaborative studies; attention paid to new phenotypes, infectious and otherwise; improved immunologic techniques; and use of exome sequencing technology. The International Union of Immunological Societies Expert Committee on PIDs recently reported on the updated classification of PIDs. However, new PIDs are being discovered at an ever-increasing rate. A series of 19 novel primary defects of immunity that have been discovered after release of the International Union of Immunological Societies report are discussed here. These new findings highlight the molecular pathways that are associated with clinical phenotypes and suggest potential therapies for affected patients.

Copyright © 2013 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

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