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Screening for severe combined immunodeficiency in neonates

Authors Kelly BT, Tam JS, Verbsky JW, Routes JM

Received 23 May 2013

Accepted for publication 15 July 2013

Published 16 September 2013 Volume 2013:5(1) Pages 363—369

DOI https://doi.org/10.2147/CLEP.S48890

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3


Brian T Kelly,1 Jonathan S Tam,1 James W Verbsky,1,2 John M Routes1,2

1Department of Pediatrics, 2Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI, USA

Abstract: 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.

Keywords: severe combined immunodeficiency, T-cell receptor excision circle, newborn screening, primary immunodeficiency

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