Evidence map›Paper›PMID 25937517›Full record

ReviewSeminars in perinatology2015

History and current status of newborn screening for severe combined immunodeficiency.

Antonia Kwan, Jennifer M Puck

Registry-linked trialOpen access · greenAbstract readHistorical ArticleReview
In one paragraph

Review in Seminars in perinatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03538899 (Phase I/II Safety and Efficacy Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency), which is not on this map. Cited by 55 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed, 2 pooled it
7.5field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03538899 phase1 / phase2recruitingnot on this mapstarted 2018, after this paper: background citation

Phase I/II Safety and Efficacy Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) in Newly Diagnosed Patients Using Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells

TypeinterventionalSponsorUniversity of California, San FranciscoRan2018 to 2038Enrolled24ConditionsSevere Combined ImmunodeficiencyArmsAProArt-CD34, CliniMACS® CD34 Reagent System cell sorter device, Busulfan
3 · Its place in the literature

Who cites it

55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 117 citations in OpenAlex.

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  9. Inborn errors of immunity (primary immunodeficiencies).Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Antonia KwanDepartment of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco, Box 0519, 513 Parnassus Ave, HSE 301A, San Francisco, CA 94143-0519.
Jennifer M PuckDepartment of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco, Box 0519, 513 Parnassus Ave, HSE 301A, San Francisco, CA 94143-0519. Electronic address: puckj@peds.ucsf.edu.
UCSF Benioff Children's Hospital · US

Funding

Training of Clinical Investigators in Primary Immune DeficienciesU54AI082973 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SULLIVAN, KATHLEEN E · 2009 to 2023
$23.3M
Newborn Screening for T-Cell Disorders: Spectrum and OutcomesR01AI105776 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BRENNER, STEVEN E, CHURCH, JOSEPH · 2013 to 2016
$2.4M
Inherited Disorders of Lymphocyte DevelopmentR01AI078248 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PUCK, JENNIFER M. · 2010 to 2014
$1.9M
NIAID NIH HHS AI105776NIAID NIH HHS R01 AI078248NIAID NIH HHS R01AI078248NIAID NIH HHS R01 AI105776NIAID NIH HHS U54 AI082973PHS HHS U54A1082973
6 · The paper itself

Abstract

The development of a T-cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T-cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period, while asymptomatic, permits early treatment and restoration of a functional immune system. SCID was the first immunodeficiency disease to be added to the Recommended Uniform Screening Panel of Core Conditions in the United States in 2010, and it is now implemented in 26 states in the U.S. This review covers the development of newborn screening for SCID, the biology of the TREC test, its current implementation in the U.S., new findings for SCID in the newborn screening era, and future directions.

Indexed as

Dried Blood Spot TestingEarly DiagnosisHistory, 20th CenturyHistory, 21st CenturyHumansInfant, NewbornLymphopeniaNeonatal ScreeningSevere Combined ImmunodeficiencyT-LymphocytesUnited StatesDiGeorge syndromehematopoietic cell transplantationprimary immunodeficiencysevere combined immunodeficiencyT-cell lymphopeniaT-cell receptor excision circle (TREC)

Identifiers

PMID25937517
PMCPMC4433840
OpenAlexW1968276260

What OpenQuestion holds

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.