Evidence map›Paper›PMID 32410729›Full record

ArticleeLife2020

Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq.

Sara E Vazquez, Elise Mn Ferré, David W Scheel, Sara Sunshine, Brenda Miao, Caleigh Mandel-Brehm, Zoe Quandt, Alice Y Chan, Mickie Cheng, Michael German and 3 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed
6.2field-weighted citation impact, top 3% 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

48 citing papers in PubMed, 68 citations in OpenAlex.

  1. Trial
  2. Review
  3. Article
  4. Article
  5. Article
  6. Gain-of-function mutation inbioRxiv : the preprint server for biology · 2026
    Article
  7. Article
  8. Mechanisms of B Cell Tolerance in Health and Autoimmunity.Arthritis & rheumatology (Hoboken, N.J.) · 2026
    Review
  9. Article
  10. Evidence for Maternal Autoantibodies in the Pathogenesis of Preterm Birth.medRxiv : the preprint server for health sciences · 2025
    Article
  11. Article
  12. Article
  13. Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025
    Review
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Aire in Autoimmunity.Annual review of immunology · 2024
    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

13 authors at 2 institutions in 1 country.

Sara E VazquezMedical Scientist Training Program, University of California, San Francisco, San Francisco, United States.ORCID 0000-0002-0601-7001
Elise Mn FerréFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy & Infectious Diseases, National Institutes of Health, Bethesda, United States.
David W ScheelDiabetes Center, University of California, San Francisco, San Francisco, United States.
Sara SunshineDepartment of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, United States.
Brenda MiaoDiabetes Center, University of California, San Francisco, San Francisco, United States.ORCID 0000-0002-3393-9837
Caleigh Mandel-BrehmDepartment of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, United States.
Zoe QuandtDepartment of Medicine, University of California, San Francisco, San Francisco, United States.
Alice Y ChanDepartment of Pediatrics, University of California, San Francisco, San Francisco, United States.
Mickie ChengDiabetes Center, University of California, San Francisco, San Francisco, United States.
Michael GermanDiabetes Center, University of California, San Francisco, San Francisco, United States.
Michail LionakisFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy & Infectious Diseases, National Institutes of Health, Bethesda, United States.
Joseph L DeRisi *Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, United States.ORCID 0000-0002-4611-9205
Mark S Anderson *Diabetes Center, University of California, San Francisco, San Francisco, United States.ORCID 0000-0002-3093-4758
University of California, San Francisco · USNational Institutes of Health · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007618 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ANDERSON, MARK S · 1985 to 2020
$29.6M
Immunopathogenesis of Fungal InfectionsZIAAI001175 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI LIONAKIS, MICHAIL · 2012 to 2025
$23.9M
Research BaseP30DK063720 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI VAISSE, CHRISTIAN · 2003 to 2019
$21.8M
Project 3: Epitope Selection in Type 1 DiabetesP01AI118688 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KAPPLER, JOHN W · 2016 to 2020
$8.4M
Microbial Pathogenesis and Host DefenseT32AI060537 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Joanne N. Engel · 2004 to 2026
$6.5M
Unraveling the Molecular Function of Mosaic, a gene mediating immune dysregulationK08AI137301 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI CHAN, ALICE · 2019 to 2023
$1.0M
The Role of RFX6 in Type 1 DiabetesF30DK123915 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI VAZQUEZ, SARA · 2019 to 2022
$183k
Intramural NIH HHS ZIA AI001175National Institute of Allergy and Infectious Diseases 1ZIAAI001175-07National Institute of Allergy and Infectious Diseases 5P01AI118688-04NIAID NIH HHS K08 AI137301NIAID NIH HHS P01 AI118688NIAID NIH HHS T32 AI060537NIDDK NIH HHS F30 DK123915NIDDK NIH HHS P30 DK063720NIGMS NIH HHS 5T32GM007618-42NIGMS NIH HHS T32 GM007618
6 · The paper itself

Abstract

The identification of autoantigens remains a critical challenge for understanding and treating autoimmune diseases. Autoimmune polyendocrine syndrome type 1 (APS1), a rare monogenic form of autoimmunity, presents as widespread autoimmunity with T and B cell responses to multiple organs. Importantly, autoantibody discovery in APS1 can illuminate fundamental disease pathogenesis, and many of the antigens found in APS1 extend to more common autoimmune diseases. Here, we performed proteome-wide programmable phage-display (PhIP-Seq) on sera from a cohort of people with APS1 and discovered multiple common antibody targets. These novel APS1 autoantigens exhibit tissue-restricted expression, including expression in enteroendocrine cells, pineal gland, and dental enamel. Using detailed clinical phenotyping, we find novel associations between autoantibodies and organ-restricted autoimmunity, including a link between anti-KHDC3L autoantibodies and premature ovarian insufficiency, and between anti-RFX6 autoantibodies and diarrheal-type intestinal dysfunction. Our study highlights the utility of PhIP-Seq for extensively interrogating antigenic repertoires in human autoimmunity and the importance of antigen discovery for improved understanding of disease mechanisms.

Indexed as

AutoimmunityCell Surface Display TechniquesProteomeProteomicsAcid PhosphataseAutoantibodiesAutoantigensBiomarkersFemaleHEK293 CellsHumansMalePeptide LibraryPolyendocrinopathies, AutoimmuneProteinsRegulatory Factor X Transcription FactorsAcid PhosphataseACP4 protein, humanAutoantibodiesAutoantigensBiomarkersKHDC3L protein, humanPeptide LibraryProteinsProteomeRegulatory Factor X Transcription FactorsRfx6 protein, humanAPECEDautoantigensautoimmunityenteroendocrine cellshumanhuman biologyimmunologyinflammationmedicineovarian insufficiencyPhIP-Seq

Identifiers

PMID32410729
PMCPMC7228772
OpenAlexW3025141660

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.