Evidence map›Paper›PMID 30565242›Full record

ReviewImmunological reviews2019

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.

Jennifer M Puck

Abstract readReview
In one paragraph

Review in Immunological reviews, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
89citing papers in PubMed, 1 pooled it
7.4field-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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

89 citing papers in PubMed, 1 synthesis or guideline pooled it, 161 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Review
  4. Review
  5. Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. Informed clinical decisions by outfoxing human FOXN1 variants.The Journal of allergy and clinical immunology · 2025
    Review
  11. Article
  12. Article
  13. Review
  14. Inborn errors of immunity (primary immunodeficiencies).Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025
    Review
  15. Review
  16. Article
  17. Article
  18. A novelFrontiers in genetics · 2025
    Article
  19. Article
  20. Genetically-determined defects of T cell development.Allergy and asthma proceedings · 2024
    Review

29 more citing papers are in PubMed but not listed here.

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

1 author at 1 institution in 2 countries.

Jennifer M PuckDivision of Allergy, Immunology and Blood and Marrow Transplantation, Department of Pediatrics, UCSF, San Francisco, California.
University of California, San Francisco · US

Funding

Training of Clinical Investigators in Primary Immune DeficienciesU54AI082973 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PAI, SUNG-YUN · 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
NIAID NIH HHS R01 AI105776NIAID NIH HHS U54 AI082973
6 · The paper itself

Abstract

The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. Upon being flagged by an abnormal screening test in a SCID screening program, an infant can receive further diagnostic testing for SCID in the neonatal period, prior to onset of infectious complications, to permit immediate institution of protective measures and definitive, life-saving treatment to establish a functional immune system. SCID screening is now the accepted standard of care in state public health departments across the United States, and it is being adopted in many countries. It has proven effective, with infants having this otherwise inapparent but serious, rare disorder achieving survival and immune reconstitution. In addition to bringing to attention infants with the primary screening target diseases, typical SCID and leaky SCID (due to hypomorphic mutations in known SCID genes), the NBS assay for insufficient TRECs in DBS also reveals infants with non-SCID T lymphopenic conditions. Experience has accumulated regarding the range and limitations of diagnoses of newborns with low TRECs and low T cells. Previously unknown immune defects have been discovered, as well as conditions not formerly recognized to have low T cells in the neonatal period.

Indexed as

Neonatal ScreeningDried Blood Spot TestingEarly DiagnosisHumansInfantInfant, NewbornLymphopeniaMutationReceptors, Antigen, T-CellSevere Combined ImmunodeficiencyT-LymphocytesUnited StatesReceptors, Antigen, T-Cellhematopoietic cell transplantationnewborn screeningprimary immunodeficiencysevere combined immunodeficiencyT cell lymphopeniaT cell receptor excision circle

Identifiers

PMID30565242
PMCPMC6324582
OpenAlexW2904195687

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.