Screening for severe combined immunodeficiency in neonates

Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diagnosis essent...

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Autores principales: Kelly, Brian T, Tam, Jonathan S, Verbsky, James W, Routes, John M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2013
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782515/
https://www.ncbi.nlm.nih.gov/pubmed/24068875
http://dx.doi.org/10.2147/CLEP.S48890
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author Kelly, Brian T
Tam, Jonathan S
Verbsky, James W
Routes, John M
author_facet Kelly, Brian T
Tam, Jonathan S
Verbsky, James W
Routes, John M
author_sort Kelly, Brian T
collection PubMed
description Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diagnosis essential. Definitive treatment is hematopoietic stem cell transplantation, with best outcomes prior to 3.5 months of age. Newborn screening for SCID using the T-cell receptor excision circle assay has revolutionized early identification of infants with SCID or severe T-cell lymphopenia.
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spelling pubmed-37825152013-09-25 Screening for severe combined immunodeficiency in neonates Kelly, Brian T Tam, Jonathan S Verbsky, James W Routes, John M Clin Epidemiol Review Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diagnosis essential. Definitive treatment is hematopoietic stem cell transplantation, with best outcomes prior to 3.5 months of age. Newborn screening for SCID using the T-cell receptor excision circle assay has revolutionized early identification of infants with SCID or severe T-cell lymphopenia. Dove Medical Press 2013-09-16 /pmc/articles/PMC3782515/ /pubmed/24068875 http://dx.doi.org/10.2147/CLEP.S48890 Text en © 2013 Kelly et al. This work is published by Dove Medical Press Ltd, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Ltd, provided the work is properly attributed.
spellingShingle Review
Kelly, Brian T
Tam, Jonathan S
Verbsky, James W
Routes, John M
Screening for severe combined immunodeficiency in neonates
title Screening for severe combined immunodeficiency in neonates
title_full Screening for severe combined immunodeficiency in neonates
title_fullStr Screening for severe combined immunodeficiency in neonates
title_full_unstemmed Screening for severe combined immunodeficiency in neonates
title_short Screening for severe combined immunodeficiency in neonates
title_sort screening for severe combined immunodeficiency in neonates
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782515/
https://www.ncbi.nlm.nih.gov/pubmed/24068875
http://dx.doi.org/10.2147/CLEP.S48890
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