Back to Journals » The Application of Clinical Genetics » Volume 5
The genetic basis of severe combined immunodeficiency and its variants
Received 10 February 2012
Accepted for publication 12 March 2012
Published 7 August 2012 Volume 2012:5 Pages 67—80
DOI https://doi.org/10.2147/TACG.S18693
Review by Single anonymous peer review
Peer reviewer comments 3
Diana Tasher,1,2 Ilan Dalal1,2
1The Pediatric Infectious and Immunology Unit, E Wolfson Medical Center, Holon, Israel; 2The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Abstract: Severe combined immunodeficiency (SCID) syndromes are characterized by a block in T lymphocyte differentiation that is variably associated with abnormal development of other lymphocyte lineages (B and/or natural killer [NK] cells), leading to death early in life unless treated urgently by hematopoietic stem cell transplant. SCID comprises genotypically and phenotypically heterogeneous conditions, of which the genetic basis for approximately 85% of the underlying immunologic defects have been recently elucidated. A major obstacle in deciphering the pathogenesis of SCID syndromes is that different mutations in a single gene may give rise to distinct clinical conditions and that a similar clinical phenotype can result from mutations in different genes. Mutation analysis is now an important component of the complete evaluation of a patient with SCID since it has a dramatic impact on many aspects of this potentially life-threatening disease such as genetic counseling, prenatal diagnosis, modalities of treatment, and, eventually, prognosis. Dr Robert Good, one of the founders of modern immunology, described the SCID syndrome as "experiments of nature." By understanding the cellular and genetic basis of these immunodeficiency diseases and, eventually, normal immunity, we optimize the "bedside to research laboratory and back again" approach to medicine.
Keywords: severe combined immune deficiency, molecular defects, lymphocytes
© 2012 The Author(s). This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.