NDLI: The case for newborn screening for severe combined immunodeficiency and related disorders

Please wait, while we are loading the content...

The case for newborn screening for severe combined immunodeficiency and related disorders

Content Provider	Scilit
Author	Puck, Jennifer M.
Copyright Year	2011
Description	Journal: Annals of the New York Academy of Sciences Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating infections and provided with an immune system through allogenic hematopoietic cell transplantation, enzyme replacement, or gene therapy. A biomarker of normal T cell development, T cell receptor excision circles (TRECs), can be measured in DNA isolated from the dried blood spots routinely obtained for newborn screening; infants identified as lacking TRECs can thus receive confirmatory testing and prompt intervention. Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment.
Related Links	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474477/pdf
Ending Page	117
Starting Page	108
ISSN	2573508X
e-ISSN	17496632
DOI	10.1111/j.1749-6632.2011.06346.x
Journal	Annals of the New York Academy of Sciences
Issue Number	1
Volume Number	1246
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2011-12-01
Access Restriction	Open
Subject Keyword	Journal: Annals of the New York Academy of Sciences Medical Laboratory Technology Primary Immunodeficiency T Cell Receptor Excision Circle (trec) Severe Combined Immunodeficiency (scid) Newborn Screening
Content Type	Text
Resource Type	Article

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Establishing Newborn Screening for SCID in the USA: Experience in California

Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay

Newborn Screening for Severe Combined Immunodeficiency in Israel

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

P-1 High Throughput Newborn Screening for Severe Combined Immunodeficiency ( SCID ) Using the Automated T-cell Receptor Excision Circle ( TREC ) in situ Assay

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

Screening for severe combined immunodeficiency in neonates

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia

The case for newborn screening for severe combined immunodeficiency and related disorders

Similar Documents

Establishing Newborn Screening for SCID in the USA: Experience in California

Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay

Newborn Screening for Severe Combined Immunodeficiency in Israel

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

P-1 High Throughput Newborn Screening for Severe Combined Immunodeficiency ( SCID ) Using the Automated T-cell Receptor Excision Circle ( TREC ) in situ Assay

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

Screening for severe combined immunodeficiency in neonates

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia

The case for newborn screening for severe combined immunodeficiency and related disorders