Evidence map›Paper›PMID 23264592›Full record

ArticleBlood2013

Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis.

Janos Sumegi, Shawnagay V Nestheide, Michael G Barnes, Joyce Villanueva, Kejian Zhang, Alexei A Grom, Alexandra H Filipovich

Abstract readValidation Study
In one paragraph

Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Article
  2. Review
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  13. Chimeric antigen receptor therapy for cancer.Annual review of medicine · 2014
    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

7 authors.

Janos SumegiDivisions of Bone Marrow Transplantation and Immunodeficiency, Cincinnati Children’s Hospital Medical Center, University of Cincinnati Faculty of Medicine, Cincinnati, OH 45229, USA. janos.sumegi@cchmc.org
Shawnagay V Nestheide
Michael G Barnes
Joyce Villanueva
Kejian Zhang
Alexei A Grom
Alexandra H Filipovich

Funding

Pediatric Rheumatology Tissue RepostoryP01AR048929 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI THOMPSON, SUSAN D · 2003 to 2015
$13.6M
ROLE OF ANGPTL4, AN ANGIOGENIC MEDIATOR, IN ARTHRITISP30AR047363 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI FLICK, MATTHEW J. · 2001 to 2015
$9.2M
Identification of Genes Involved in FHLHR21AI076746 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI SUMEGI, JANOS · 2009 to 2010
$418k
Functional Identification of Genes Mutated in FHLHR21AI079759 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI SUMEGI, JANOS · 2008 to 2009
$413k
NIAID NIH HHS R21 AI076746NIAID NIH HHS R21 AI079759NIAMS NIH HHS P01 AR048929NIAMS NIH HHS P30 AR047363
6 · The paper itself

Abstract

We performed gene-expression profiling of PBMCs obtained from patients with familial hemophagocytic lymphohistiocytosis (FHL) to screen for biologic correlates with the genetic and/or clinical forms of this disease. Unsupervised hierarchical clustering of 167 differentially expressed probe sets, representing 143 genes, identified 3 groups of patients corresponding to the genetic forms and clinical presentations of the disease. Two clusters of up- and down-regulated genes separated patients with perforin-deficient FHL from those with unidentified genetic cause(s) of the disease. The clusterscomprised genes involved in defense/immune responses, apoptosis, zinc homeostasis, and systemic inflammation. Unsupervised hierarchical clustering partitioned patients with unknown genetic cause(s) of FHL into 2 well-distinguished subgroups. Patterns of up- and down-regulated genes separated patients with “late-onset” and “relapsing” forms of FHL from patients with an “early onset and rapidly evolving” form of the disease. A cluster was identified in patients with “late onset and relapsing” form of FHL related to B- and T-cell differentiation/survival, T-cell activation, and vesicular transport. The resulting data suggest that unique gene-expression signatures can distinguish between genetic and clinical subtypes of FHL. These differentially expressed genes may represent biomarkers that can be used as predictors of disease progression.

Indexed as

AdolescentAge of OnsetCase-Control StudiesChildChild, PreschoolCohort StudiesDisease ProgressionGene Expression ProfilingHumansInfantLymphohistiocytosis, HemophagocyticMultigene FamilyMutationPerforinPore Forming Cytotoxic ProteinsReal-Time Polymerase Chain ReactionPerforinPore Forming Cytotoxic ProteinsPRF1 protein, human

Identifiers

PMID23264592
PMCPMC3575760

What OpenQuestion holds

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Registered trials

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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.