Evidence map›Paper›PMID 24691999›Full record

ReviewJournal of clinical immunology2014

The case for mandatory newborn screening for severe combined immunodeficiency (SCID).

H B Gaspar, L Hammarström, N Mahlaoui, M Borte, S Borte

Abstract readReview
PubMed Publisher
In one paragraph

Review in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
5.3field-weighted citation impact, top 3% 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

14 citing papers in PubMed, 66 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Short telomere syndromes cause a primary T cell immunodeficiency.The Journal of clinical investigation · 2018
    Article
  8. Review
  9. Article
  10. FOXN1 deficient nude severe combined immunodeficiency.Orphanet journal of rare diseases · 2017
    Review
  11. Article
  12. Review
  13. Article
  14. Review
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

5 authors at 4 institutions in 4 countries.

H B GasparMolecular Immunology Unit, UCL Institute of Child Health and Great Ormond Street Hospital, 30, Guilford Street, London, WC1N 1EH, UK, h.gaspar@ucl.ac.uk.
L Hammarström
N Mahlaoui
M Borte
S Borte
Leipzig University · DEAssistance Publique – Hôpitaux de Paris · FRKarolinska Institutet · SEUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe combined immunodeficiency (SCID) is the most severe form of inherited primary immunodeficiency and is a paediatric emergency. Delay in recognising and detecting SCID can have fatal consequences and also reduces the chances of a successful haematopoietic stem cell transplant (HSCT). Screening for SCID at birth would prevent children from dying before HSCT can be attempted and would increase the success of HSCT. There is strong evidence to show that SCID fulfills the internationally-established criteria for a condition to be screened for at birth. There is also a test (the T-cell receptor excision circle (TREC) assay) that is now being successfully used in an increasing number of US states to screen for SCID in routine newborn Guthrie samples. Concerted lobbying efforts have highlighted the need for newborn screening (NBS) for SCID, and its implementation is being discussed in Europe both at EU and individual country level, but as yet there is no global mandate to screen for this rare and frequently lethal condition. This paper summarizes the current evidence for, and the success of SCID NBS, together with a review of the practical aspects of SCID testing and the arguments in favour of adding SCID to the conditions screened for at birth.

Indexed as

Hematopoietic Stem Cell TransplantationEnzyme Replacement TherapyEuropeFemaleGenetic TherapyHumansInfant, NewbornLymphocyte CountMaleNeonatal ScreeningSevere Combined ImmunodeficiencyT-LymphocytesUnited States

Identifiers

PMID24691999
OpenAlexW2047675180

What OpenQuestion holds

Textmetadata
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.