Evidence map›Paper›PMID 24135998›Full record

ReviewCurrent opinion in allergy and clinical immunology2013

Inborn errors of the development of human natural killer cells.

Emmanuelle Jouanguy, Laure Gineau, Julien Cottineau, Vivien Béziat, Eric Vivier, Jean-Laurent Casanova

Open access · greenAbstract readReview
In one paragraph

Review in Current opinion in allergy and clinical immunology, 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
1.8field-weighted citation impact, top 16% 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

13 citing papers in PubMed, 28 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. How I Manage Natural Killer Cell Deficiency.Journal of clinical immunology · 2020
    Article
  6. Review
  7. Lessons learned from the study of human inborn errors of innate immunity.The Journal of allergy and clinical immunology · 2019
    Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Review
  13. 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

6 authors at 5 institutions in 3 countries.

Emmanuelle JouanguyaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, Necker Hospital for Sick Children bParis Descartes University, Imagine Institute, Paris, France cSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA dCenter for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden eCentre d'Immunologie de Marseille-Luminy, INSERM U1104 fCNRS UMR7280 gAix Marseille Université, UM2 hService d'Immunologie, Assistance Publique - Hôpitaux de Marseille, Hôpital de la Conception, Marseille iPediatric Hematology-Immunology Unit, Necker Hospital, Paris, France.
Laure Gineau
Julien Cottineau
Vivien Béziat
Eric Vivier
Jean-Laurent Casanova
Rockefeller University · USCentre d’Immunologie de Marseille-Luminy · FRInserm · FRKarolinska Institutet · SEUniversité Paris Cité · FR

Funding

Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8M
NCATS NIH HHS UL1 TR000043NCATS NIH HHS UL1TR000043
6 · The paper itself

Abstract

purpose of reviewInborn errors of human natural killer (NK) cells may affect the development of these cells, their function, or both. There are two broad categories of genetic defects of NK cell development, depending on whether the deficiency is apparently specific to NK cells or clearly affects multiple hematopoietic lineages. We review here recent progress in the genetic dissection of these NK deficiencies (NKDs). RECENT

findingsPatients with severe combined immunodeficiencies bearing mutations of adenosine deaminase, adenylate kinase 2, interleukin-2 receptor gamma chain, and Janus kinase 3 genes present NKDs and are prone to a broad range of infections. Patients with GATA binding protein 2 deficiency are susceptible to both mycobacterial and viral infections, and display NKDs and a lack of monocytes. Rare patients with mini chromosomal maintenance 4 deficiency display an apparently selective NKD associated with viral infections, but they also display various nonhematopoietic phenotypes, including adrenal insufficiency and growth retardation. SUMMARY: These studies have initiated a genetic dissection of the development of human NK cells. Further studies are warranted, including the search for genetic causes of NKD in particular. This research may lead to the discovery of molecules specifically controlling the development of NK cells and to improvements in our understanding of the hitherto elusive function of these cells in humans.

Indexed as

Adenosine DeaminaseAdenylate KinaseAgammaglobulinemiaGATA2 Transcription FactorHumansJanus Kinase 2Janus Kinase 3Killer Cells, NaturalMinichromosome Maintenance Complex Component 4Mycobacterium InfectionsSevere Combined ImmunodeficiencyVirus DiseasesADA protein, humanAdenosine DeaminaseAdenylate Kinaseadenylate kinase 2GATA2 protein, humanGATA2 Transcription FactorJAK2 protein, humanJAK3 protein, humanJanus Kinase 2Janus Kinase 3MCM4 protein, humanMinichromosome Maintenance Complex Component 4

Identifiers

PMID24135998
PMCPMC4077347
OpenAlexW2081010934

What OpenQuestion holds

Textmetadata
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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.