Evidence map›Paper›PMID 30723080›Full record

ArticleBlood2019

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.

Amy P Hsu, Agnes Donkó, Megan E Arrington, Muthulekha Swamydas, Danielle Fink, Arundhoti Das, Omar Escobedo, Vincent Bonagura, Paul Szabolcs, Harry N Steinberg and 14 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Blood, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
9.0field-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

43 citing papers in PubMed, 80 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. How Functional Variants Reconfigure the Rac2 Conformational Landscape.bioRxiv : the preprint server for biology · 2026
    Article
  5. Article
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  7. Review
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  11. Article
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  15. Article
  16. Phenotypic spectrum in a family with a novelClinical & translational immunology · 2024
    Article
  17. Review
  18. Hyperactive Rac stimulates cannibalism of living target cells and enhances CAR-M-mediated cancer cell killing.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  19. Dispensable role of Rac1 and Rac3 after cochlear hair cell specification.Journal of molecular medicine (Berlin, Germany) · 2023
    Article
  20. 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

24 authors at 10 institutions in 1 country.

Amy P HsuImmunopathogenesis Section and.ORCID 0000-0001-6841-2122
Agnes DonkóMolecular Defenses Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD.
Megan E ArringtonChemistry, University of North Carolina (UNC), Chapel Hill, NC.
Muthulekha SwamydasFungal Pathogenesis Section, LCIM, NIAID, NIH, Bethesda, MD.
Danielle FinkNeutrophil Monitoring Laboratory, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD.
Arundhoti DasLaboratory of Genome Integrity, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD.
Omar EscobedoMolecular Defenses Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD.
Vincent BonaguraCohen Children's Medical Center, New York, NY.
Paul SzabolcsUPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.
Harry N SteinbergNorth Shore University Hospital, New Hyde Park, NY.
Jenna BergersonImmunopathogenesis Section and.
Amanda SkoskiewiczAnn & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Melanie MakhijaAnn & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Joie DavisImmunopathogenesis Section and.
Ladan ForuraghiImmunopathogenesis Section and.
Cindy PalmerImmunopathogenesis Section and.
Ramsay L FuleihanAnn & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Joseph A ChurchPediatric Allergy/Immunology, Children's Hospital Los Angeles, Los Angeles, CA.
Avinash BhandoolaLaboratory of Genome Integrity, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD.
Michail S LionakisFungal Pathogenesis Section, LCIM, NIAID, NIH, Bethesda, MD.
Sharon CampbellBiochemistry and Biophysics, UNC Lineberger Comprehensive Cancer Center, UNC, Chapel Hill, NC.ORCID 0000-0003-0311-409X
Thomas L LetoMolecular Defenses Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD.
Douglas B KuhnsNeutrophil Monitoring Laboratory, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD.
Steven M HollandImmunopathogenesis Section and.
Organogenesis (United States) · USLurie Children's Hospital · USNational Institutes of Health · USLeidos (United States) · USNational Cancer Institute · USUniversity of North Carolina at Chapel Hill · USChildren's Hospital of Los Angeles · USChildren's Hospital of Pittsburgh · USCohen Children's Medical Center · USNorth Shore University Hospital · US

Funding

Immunopathogenesis of Fungal InfectionsZIAAI001175 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI LIONAKIS, MICHAIL · 2012 to 2025
$23.9M
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
T cell Development and RegenerationZIABC011633 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI BHANDOOLA, AVINASH · 2015 to 2025
$20.5M
NOX family NADPH oxidases: roles in innate immunity and inflammatory diseaseZIAAI000614 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI LETO, THOMAS · 2009 to 2024
$16.2M
Project 4: The role of codon bias in RAS tumorigenesisP01CA203657 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI COUNTER, CHRISTOPHER M · 2016 to 2020
$7.9M
HPV-Specific, Immune Suppression in Patients with RRPR01DE017227 · NIDCR · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI BONAGURA, VINCENT ROBERT · 2006 to 2017
$4.5M
Structure and Mechanism of G-proteins and cell adhesion proteins in regulation of cell growth and motilityR35GM134962 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Sharon L Campbell · 2020 to 2026
$4.2M
Reprogramming Host Immune Responses to Cure or Control Persistent HPV InfectionR21AI105987 · NIAID · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI BONAGURA, VINCENT ROBERT · 2013 to 2014
$589k
NCI NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENCI NIH HHS P01 CA203657NIAID NIH HHS R21 AI105987NIDCR NIH HHS R01 DE017227NIGMS NIH HHS R35 GM134962
6 · The paper itself

Abstract

Ras-related C3 botulinum toxin substrate 2 (RAC2), through interactions with reduced NAD phosphate oxidase component p67

Indexed as

AdolescentAdultAnimalsChild, PreschoolCytoskeletonFemaleGain of Function MutationHumansImmunologic Deficiency SyndromesInfantInfant, NewbornLymphopeniaMiceMice, Inbred C57BLPedigreeRAC2 GTP-Binding ProteinRAC2 GTP-Binding Proteinrac GTP-Binding Proteins

Identifiers

PMID30723080
PMCPMC6497516
OpenAlexW2911871438

What OpenQuestion holds

Textmetadata
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.