IMR Press / FBL / Volume 10 / Issue 2 / DOI: 10.2741/1596

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Newborn screening for severe combined immunodeficiency (SCID): a review
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1 Center for Demographic Studies, Duke University 2117 Campus Drive Box 90408 Durham, North Carolina 27708, USA

Academic Editor: Kenneth Manton

Front. Biosci. (Landmark Ed) 2005, 10(2), 1024–1039; https://doi.org/10.2741/1596
Published: 1 May 2005
(This article belongs to the Special Issue Bio-demographic effects of genome-proteome interactions)
Abstract

Because prompt intervention may prevent complications, early diagnosis is important in many inherited metabolic diseases. Early diagnosis of Severe Combined Immunodeficiency (SCID) is critical - because chances for successful treatment are highest for infants who have not yet experienced severe opportunistic infections. SCID is a rare disease that can be detected in newborn infants (i.e., those < or = 1 month of age) by automated blood count and manual differential. Early diagnosis of SCID is rare since, because estimates of the incidence rate range from one in 50,000 to 100,000 births, most pediatricians do not routinely count white blood cells in newborns. Tests for T-cell lymphopenia (TCLP) using dried blood spots (DBS) could be used to identify children with SCID - as well as for other immunodeficiencies that would not be apparent until after the child developed an infection. Screening newborns for SCID would allow early diagnosis and treatment -- as well as genetic counseling for the family.

Keywords
Severe Combined Immunodeficiency Disease
SCID
Immunodeficiency
Immune deficiency
Bone marrow transplantation
BMT
T- cell lymphopenia
TCLP
Dried blood spots
DBS
Review
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