Screening for Severe Combined Immunodeficiency in Neonates

Overview

Journal Clin Epidemiol

Publisher Dove Medical Press

Specialty Public Health

Date 2013 Sep 27

PMID 24068875

Citations 12

Authors

Brian T Kelly

Jonathan S Tam

James W Verbsky

John M Routes

Affiliations

Soon will be listed here.

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.

Citing Articles

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Increased mortality in infants with abnormal T-cell receptor excision circles.

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