Evidence map›Paper›PMID 22520845›Full record

ReviewImmunity2012

Inborn errors of human JAKs and STATs.

Jean-Laurent Casanova, Steven M Holland, Luigi D Notarangelo

Open access · bronzeAbstract readReview
In one paragraph

Review in Immunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 177 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
177citing papers in PubMed, 3 pooled it
14.2field-weighted citation impact, top 1% 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

177 citing papers in PubMed, 3 syntheses or guidelines pooled it, 324 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
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  6. Trial
  7. Review
  8. Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025
    Review
  9. An activatingScience immunology · 2025
    Article
  10. Review
  11. NovelImmune network · 2025
    Article
  12. Review
  13. Article
  14. The genetics of hyper IgE syndromes.Frontiers in immunology · 2025
    Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

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

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

3 authors at 3 institutions in 2 countries.

Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, Rockefeller University Hospital, New York, NY 10065, USA. jean-laurent.casanova@rockefeller.edu
Steven M Holland
Luigi D Notarangelo
Harvard University · USNational Institutes of Health · USUniversité Paris Cité · FR

Funding

TRANSFORMING TRANSLATIONAL SCIENCE AND EDUCATION TO BENEFIT HUMAN HEALTHUL1RR024143 · NCRR · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2006 to 2011
$49.1M
Genes And Gene Products As ImmunoadjuvantsZIAAI000647 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.6M
Transgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2M
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6M
A genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)R01AI089970 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2010 to 2014
$2.5M
Intramural NIH HHSNCRR NIH HHS UL1 RR024143NCRR NIH HHS UL1RR024143NIAID NIH HHS 1R37AI095983-01NIAID NIH HHS 5R01AI089970-02NIAID NIH HHS R01 AI089970NIAID NIH HHS R37 AI095983
6 · The paper itself

Abstract

Inborn errors of the genes encoding two of the four human JAKs (JAK3 and TYK2) and three of the six human STATs (STAT1, STAT3, and STAT5B) have been described. We review the disorders arising from mutations in these five genes, highlighting the way in which the molecular and cellular pathogenesis of these conditions has been clarified by the discovery of inborn errors of cytokines, hormones, and their receptors, including those interacting with JAKs and STATs. The phenotypic similarities between mice and humans lacking individual JAK-STAT components suggest that the functions of JAKs and STATs are largely conserved in mammals. However, a wide array of phenotypic differences has emerged between mice and humans carrying biallelic null alleles of JAK3, TYK2, STAT1, or STAT5B. Moreover, the high degree of allelic heterogeneity at the human JAK3, TYK2, STAT1, and STAT3 loci has revealed highly diverse immunological and clinical phenotypes, which had not been anticipated.

Indexed as

AnimalsGenetic Predisposition to DiseaseHumansImmunologic Deficiency SyndromesInterferonsInterleukinsJanus KinasesMiceMutationSevere Combined ImmunodeficiencySignal TransductionSTAT Transcription FactorsInterferonsInterleukinsJanus KinasesSTAT Transcription Factors

Identifiers

PMID22520845
PMCPMC3334867
OpenAlexW2084409051

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.