Evidence map›Paper›PMID 22174160›Full record

ArticleBlood2012

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.

Nadine T Nehme, Jana Pachlopnik Schmid, Franck Debeurme, Isabelle André-Schmutz, Annick Lim, Patrick Nitschke, Frédéric Rieux-Laucat, Patrick Lutz, Capucine Picard, Nizar Mahlaoui and 2 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Blood, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 140 papers.

0numbers the graph read from it
0cells of the map it votes in
140citing papers in PubMed
7.6field-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

140 citing papers in PubMed, 278 citations in OpenAlex.

  1. Article
  2. Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026
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  5. Hippo signaling regulates cuticle pigmentation and dopamine metabolism inbioRxiv : the preprint server for biology · 2025
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  9. Review
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  12. Article
  13. Article
  14. Article
  15. Genetics of Primary Hemophagocytic Lymphohistiocytosis.Advances in experimental medicine and biology · 2024
    Review
  16. Article
  17. MST1/2 in inflammation and immunity.Cell adhesion & migration · 2023
    Review
  18. Review
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 1 country.

Nadine T NehmeInserm U768, Paris, France.
Jana Pachlopnik SchmidInserm U768, Paris, France.
Franck DebeurmeInserm U768, Paris, France.
Isabelle André-SchmutzInserm U768, Paris, France.
Annick LimInserm U668 and Lymphocyte Development Unit, Institut Pasteur, Paris, France.
Patrick NitschkeService de Bioinformatique, Université Paris Descartes, Paris, France.
Frédéric Rieux-LaucatInserm U768, Paris, France.
Patrick LutzUnité d'Hématologie Pédiatrique, Hôpital de Hautepierre, Strasbourg, France.
Capucine Picard *Université Paris Descartes, Sorbone Paris Cité, Faculté de Médecine, Necker Hospital, Paris, France.
Nizar Mahlaoui *Université Paris Descartes, Sorbone Paris Cité, Faculté de Médecine, Necker Hospital, Paris, France.
Alain Fischer *Inserm U768, Paris, France.
Geneviève de Saint Basile *Inserm U768, Paris, France.
Université Paris Cité · FRInserm · FRDélégation Paris 5 · FRHôpital d'Hautepierre · FR

Funding

European Research Council 249816
6 · The paper itself

Abstract

The molecular mechanisms that underlie T-cell quiescence are poorly understood. In the present study, we report a primary immunodeficiency phenotype associated with MST1 deficiency and primarily characterized by a progressive loss of naive T cells. The in vivo consequences include recurrent bacterial and viral infections and autoimmune manifestations. MST1-deficient T cells poorly expressed the transcription factor FOXO1, the IL-7 receptor, and BCL2. Conversely, FAS expression and the FAS-mediating apoptotic pathway were up-regulated. These abnormalities suggest that increased cell death of naive and proliferating T cells is the main mechanism underlying this novel immunodeficiency. Our results characterize a new mechanism in primary T-cell immunodeficiencies and highlight a role of the MST1/FOXO1 pathway in controlling the death of human naive T cells.

Indexed as

MutationAdolescentCells, CulturedCell SurvivalChildChild, PreschoolFamilyFemaleGenes, RecessiveHippo KinasesHumansImmunologic Deficiency SyndromesIntracellular Signaling Peptides and ProteinsMalePedigreeProtein Serine-Threonine KinasesHippo KinasesIntracellular Signaling Peptides and ProteinsProtein Serine-Threonine KinasesSTK4 protein, human

Identifiers

PMID22174160
PMCPMC3824282
OpenAlexW2072367725

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.