Evidence map›Paper›PMID 40161871›Full record

ArticleEJHaem2025

Leaky Artemis Deficiency and EBV-Related Lymphoproliferative Disease: A Novel Case and Review of the Literature.

Lucie Roussel, Stephane Bernier, Gertruda Evaristo, Anna Perez, Sanabelle Zaabat, Romina Pace, Yichun Sun, Isabelle Angers, John Storring, Donald C Vinh

Abstract read
In one paragraph

Article in EJHaem, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Lucie RousselCentre of Reference for Genetic Research in Infection and Immunity Research Institute-McGill University Health Centre Montreal Quebec Canada.ORCID https://orcid.org/0000-0001-5355-702X
Stephane BernierCentre of Reference for Genetic Research in Infection and Immunity Research Institute-McGill University Health Centre Montreal Quebec Canada.
Gertruda EvaristoDepartment of Pathology McGill University Health Centre Montreal Quebec Canada.
Anna PerezCentre of Reference for Genetic Research in Infection and Immunity Research Institute-McGill University Health Centre Montreal Quebec Canada.
Sanabelle ZaabatDepartment of Medicine Division of Internal Medicine McGill University Health Centre Montreal Quebec Canada.
Romina PaceDepartment of Medicine Division of Internal Medicine McGill University Health Centre Montreal Quebec Canada.
Yichun SunCentre of Reference for Genetic Research in Infection and Immunity Research Institute-McGill University Health Centre Montreal Quebec Canada.
Isabelle AngersCentre of Reference for Genetic Research in Infection and Immunity Research Institute-McGill University Health Centre Montreal Quebec Canada.
John StorringDepartment of Medicine Division of Hematology McGill University Health Centre Montreal Quebec Canada.
Donald C VinhCentre of Reference for Genetic Research in Infection and Immunity Research Institute-McGill University Health Centre Montreal Quebec Canada.ORCID https://orcid.org/0000-0003-1347-7767

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Artemis ( Methods: Genetic analysis was performed to identify mutations in the Results: Biallelic p.Leu70del frameshift mutation in Conclusion: Our report adds hypomorphic Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.

Indexed as

adultEBVlate‐onsetleaky Artemislymphoproliferative disorder

Identifiers

PMID40161871
PMCPMC11952059

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.