Evidence map›Paper›PMID 31040184›Full record

ArticleThe Journal of experimental medicine2019

A novel human

Isabel Z Fernandez, Ryan M Baxter, Josselyn E Garcia-Perez, Elena Vendrame, Thanmayi Ranganath, Daniel S Kong, Karl Lundquist, Tom Nguyen, Sidney Ogolla, Jennifer Black and 14 more

Erratum issuedOpen access · bronzeAbstract read
In one paragraph

Article in The Journal of experimental medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 52 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 2 pooled it
4.5field-weighted citation impact, top 5% 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

52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 92 citations in OpenAlex.

  1. Pooled it
  2. A Systematic Review of Monogenic Inflammatory Bowel Disease.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2022
    Pooled it
  3. Article
  4. Review
  5. Article
  6. Article
  7. Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Tregopathy in focus.Frontiers in immunology · 2025
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Infections in Disorders of Immune Regulation.Pathogens (Basel, Switzerland) · 2024
    Review
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors at 5 institutions in 1 country.

Isabel Z Fernandez *Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO.
Ryan M Baxter *Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO.
Josselyn E Garcia-PerezDepartment of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO.ORCID 0000-0003-2369-532X
Elena VendrameDepartment of Medicine, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0002-5595-1773
Thanmayi RanganathDepartment of Medicine, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0001-9865-2119
Daniel S KongDepartment of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO.
Karl LundquistSchool of Physics, Georgia Institute of Technology, Atlanta, GA.ORCID 0000-0002-3418-8342
Tom NguyenDepartment of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, University of Colorado School of Medicine, Digestive Health Institute, Children's Hospital Colorado, Aurora, CO.
Sidney OgollaDepartment of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO.
Jennifer BlackDepartment of Pathology and Laboratory Medicine, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO.
Csaba GalambosDepartment of Pathology and Laboratory Medicine, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO.ORCID 0000-0002-8940-6650
James C GumbartSchool of Physics, Georgia Institute of Technology, Atlanta, GA.
Noor DawanyDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA.ORCID 0000-0003-2983-3893
Judith R KelsenDepartment of Pediatrics, Division of Gastroenterology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.ORCID 0000-0003-0038-318X
Edwin F de ZoetenDepartment of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, University of Colorado School of Medicine, Digestive Health Institute, Children's Hospital Colorado, Aurora, CO.ORCID 0000-0002-0946-9759
Ralph QuinonesDepartment of Pediatrics, Division of Hematology/Oncology and Blood and Marrow Transplantation, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO.
Hesham EissaDepartment of Pediatrics, Division of Hematology/Oncology and Blood and Marrow Transplantation, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO.
Michael R VernerisDepartment of Pediatrics, Division of Hematology/Oncology and Blood and Marrow Transplantation, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO.ORCID 0000-0002-7097-5917
Kathleen E SullivanDepartment of Pediatrics, Division of Allergy and Immunology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Rosemary RochfordDepartment of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO.ORCID 0000-0002-0001-5152
Catherine A BlishDepartment of Medicine, Stanford University School of Medicine, Stanford, CA.
Ross M Kedl *Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO ross.kedl@ucdenver.edu.
Cullen M Dutmer *Department of Pediatrics, Section of Allergy and Immunology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO cullen.dutmer@childrenscolorado.org.ORCID 0000-0001-9806-4739
Elena W Y Hsieh *Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO elena.hsieh@ucdenver.edu.ORCID 0000-0003-3969-6597
Children's Hospital Colorado · USUniversity of Colorado Denver · USChildren's Hospital of Philadelphia · USStanford University · USGeorgia Institute of Technology · US

Funding

Medical Scientist Training ProgramT32GM008497 · NIGMS · UNIVERSITY OF COLORADO DENVER · PI WILSON, CARA C. · 1993 to 2022
$15.2M
TRAINING PROGRAM IN IMMUNOLOGYT32AI007405 · NIAID · UNIVERSITY OF COLORADO DENVER · PI Laurel L Lenz, Raul Martin Torres · 1991 to 2026
$10.5M
Transcriptional regulation of vaccine-elicited and infection-elicited CD8+ T cell responsesR01AI066121 · NIAID · UNIVERSITY OF COLORADO DENVER · PI Ross M Kedl · 2007 to 2026
$7.1M
EMERGING INFECTIOUS DISEASEST32AI007502 · NIAID · STANFORD UNIVERSITY · PI Prasanna Jagannathan, DAVID A. RELMAN · 1995 to 2026
$6.8M
Effects of Malaria on EBV Persistence in ChildrenR01CA102667 · NCI · UPSTATE MEDICAL UNIVERSITY · PI ROCHFORD, ROSEMARY · 2005 to 2014
$2.9M
Molecular and cellular basis of Combined Adjuvant-Elicited Cellular ImmunityR01AI126899 · NIAID · UNIVERSITY OF COLORADO DENVER · PI KEDL, ROSS M · 2016 to 2020
$2.5M
Impact of HIV exposure, feeding status, and microbiome on immune ontogeny and vaccine responses in infantsU01AI131302 · NIAID · STANFORD UNIVERSITY · PI BLISH, CATHERINE A, GRAY, CLIVE MAURICE · 2017 to 2021
$2.1M
Lymphoid Tissue Inducer/NK22 Cells and Post-transplant Immune RecoveryR01AI100879 · NIAID · UNIVERSITY OF MINNESOTA · PI VERNERIS, MICHAEL R. · 2013 to 2017
$1.9M
Virtual Memory T Cell Development and Responses In VivoR01AI101205 · NIAID · UNIVERSITY OF COLORADO DENVER · PI KEDL, ROSS M · 2013 to 2017
$1.8M
Dynamic characterization of outer-membrane-protein biogenesis by the BAM and TAM complexesR01GM123169 · NIGMS · GEORGIA INSTITUTE OF TECHNOLOGY · PI GUMBART, JAMES C. · 2017 to 2021
$1.4M
Spectrum Stanford Center for Clinical and Translational Research and EducationTL1TR001084 · NCATS · STANFORD UNIVERSITY · PI CULLEN, MARK RICHARD, GREENBERG, HARRY BERNARD · 2013 to 2017
$1.1M
Very Early-onset inflammatory bowel diseaseK23DK100461 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI KELSEN, JUDITH RACHEL · 2014 to 2018
$893k
NCATS NIH HHS TL1 TR001084NCI NIH HHS R01 CA102667NHLBI NIH HHS R56 HL068702NIAID NIH HHS R01 AI066121NIAID NIH HHS R01 AI100879NIAID NIH HHS R01 AI101205NIAID NIH HHS R01 AI126899NIAID NIH HHS T32 AI007405NIAID NIH HHS T32 AI007502NIAID NIH HHS U01 AI131302NIAMS NIH HHS K23 AR070897NIDDK NIH HHS K23 DK100461NIGMS NIH HHS R01 GM123169NIGMS NIH HHS T32 GM008497
6 · The paper itself

Abstract

The pleiotropic actions of interleukin-2 (IL-2) are essential for regulation of immune responses and maintenance of immune tolerance. The IL-2 receptor (IL-2R) is composed of IL-2Rα, IL-2Rβ, and IL-2Rγ subunits, with defects in IL-2Rα and IL-2Rγ and their downstream signaling effectors resulting in known primary immunodeficiency disorders. Here, we report the first human defect in IL-2Rβ, occurring in two infant siblings with a homozygous

Indexed as

AutoimmunityCell CompartmentationCell ProliferationCytomegalovirus InfectionsHomozygoteHumansImmunophenotypingInterleukin-15Interleukin-2Interleukin-2 Receptor beta SubunitKiller Cells, NaturalModels, MolecularMutationPhenotypeSiblingsSignal TransductionIL2RB protein, humanInterleukin-15Interleukin-2Interleukin-2 Receptor beta Subunit

Identifiers

PMID31040184
PMCPMC6547857
OpenAlexW2943441439

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.