Evidence map›Paper›PMID 41608122›Full record

ArticleJournal of human immunity2026

Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic.

Marie Materna, Christian Beetz, Christian A Ganoza, Caroline Deswarte, Lucien Pereira Estrela, Nima Parvaneh, Jean-Laurent Casanova, Vivien Béziat

Abstract read
In one paragraph

Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

8 authors.

Marie MaternaLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0003-2145-5285
Christian BeetzCentogene GmbH, Rostock, Germany.ORCID https://orcid.org/0000-0001-7061-2895
Christian A GanozaCentogene GmbH, Rostock, Germany.ORCID https://orcid.org/0000-0002-5891-5372
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-8775-3368
Lucien Pereira EstrelaLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0001-6522-2323
Nima ParvanehDivision of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Science, Tehran, Iran.ORCID https://orcid.org/0000-0002-3397-9716
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-7782-4169
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-4020-824X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We identified six individuals with homozygous truncating variants in the pre-TCRα intracellular tail, revealing hypomorphic and neutral alleles. Functional assays show the tail is largely dispensable for pre-TCR expression and highlight the need for experimental validation of such variants.

Identifiers

PMID41608122
PMCPMC12842982

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.