Evidence map›Paper›PMID 35477763›Full record

ArticleNature2022

TLR7 gain-of-function genetic variation causes human lupus.

Grant J Brown, Pablo F Cañete, Hao Wang, Arti Medhavy, Josiah Bones, Jonathan A Roco, Yuke He, Yuting Qin, Jean Cappello, Julia I Ellyard and 34 more

Open access · hybridAbstract read
In one paragraph

Article in Nature, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 348 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
348citing papers in PubMed, 2 pooled it
42.1field-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

348 citing papers in PubMed, 2 syntheses or guidelines pooled it, 528 citations in OpenAlex.

  1. The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.The Journal of clinical endocrinology and metabolism · 2026
    Pooled it
  2. Pooled it
  3. Trial
  4. Trial
  5. Review
  6. Article
  7. Review
  8. Targeting T follicular helper cells for lifelong health.Nature reviews. Drug discovery · 2026
    Review
  9. Review
  10. Article
  11. Review
  12. The cellular landscape of druggable RNA-binding proteins.Nature reviews. Drug discovery · 2026
    Review
  13. The SLC15A4-TASL complex is essential for lupus development in mice.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  14. Review
  15. Article
  16. Review
  17. Review
  18. Article
  19. Innate immunity: current understandings and future perspectives.Signal transduction and targeted therapy · 2026
    Review
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

44 authors at 13 institutions in 5 countries.

Grant J BrownCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0002-9721-5539
Pablo F Cañete *Centre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Hao Wang *Centre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Arti MedhavyCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0003-2778-3650
Josiah BonesResearch School of Biology, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0001-5419-9914
Jonathan A RocoCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Yuke HeChina Australia Centre for Personalised Immunology, Shanghai Renji Hospital, Shanghai Jiaotong University, Shanghai, China.ORCID http://orcid.org/0000-0002-6716-198X
Yuting QinChina Australia Centre for Personalised Immunology, Shanghai Renji Hospital, Shanghai Jiaotong University, Shanghai, China.
Jean CappelloCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Julia I EllyardCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0001-6301-2533
Katharine BassettCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Qian ShenCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Gaetan BurgioCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Yaoyuan ZhangCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0002-0256-098X
Cynthia TurnbullCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Xiangpeng MengCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Phil WuCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Eun ChoCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0001-9039-9876
Lisa A MiosgeCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
T Daniel AndrewsCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0003-3922-6376
Matt A FieldCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0003-0788-6513
Denis TvorogovCentre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
Angel F LopezCentre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
Jeffrey J BabonDivision of Structural Biology, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0002-5408-6239
Cristina Aparicio LópezSección de Nefrología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
África Gónzalez-MurilloUnidad de Terapias Avanzadas, Oncología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.ORCID http://orcid.org/0000-0001-7747-1204
Daniel Clemente GaruloUnidad de Reumatología, Hospital del Niño Jesus, Madrid, Spain.
Virginia PascualDepartment of Pediatrics, Drukier Institute for Children's Health, Weill Cornell Medical College, New York, NY, USA.ORCID http://orcid.org/0000-0002-8806-8426
Tess LevySeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Eric J MallackDivision of Child Neurology, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, NY, USA.ORCID http://orcid.org/0000-0002-2678-8807
Daniel G CalameDivision of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Timothy LotzeDivision of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
James R LupskiTexas Children's Hospital, Houston, TX, USA.ORCID http://orcid.org/0000-0001-9907-9246
Huihua DingChina Australia Centre for Personalised Immunology, Shanghai Renji Hospital, Shanghai Jiaotong University, Shanghai, China.
Tomalika R UllahCentre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, Clayton, Victoria, Australia.
Giles D WaltersDepartment of Renal Medicine, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.
Mark E KoinaDepartment of Anatomical Pathology, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.
Matthew C CookCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Nan ShenChina Australia Centre for Personalised Immunology, Shanghai Renji Hospital, Shanghai Jiaotong University, Shanghai, China.ORCID http://orcid.org/0000-0002-5875-4417
Carmen de Lucas CollantesSección de Nefrología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Ben CorryResearch School of Biology, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0002-6324-442X
Michael P GantierShanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai, Jiao Tong University (SJTUSM), Shanghai, China.ORCID http://orcid.org/0000-0003-3740-698X
Vicki AthanasopoulosCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0002-5764-5948
Carola G VinuesaCentre for Personalised Immunology, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia. carola.vinuesa@crick.ac.uk.ORCID http://orcid.org/0000-0001-9799-0298
Australian National University · AUHospital Infantil Universitario Niño Jesús · ESBaylor College of Medicine · USSouth Australia Pathology · AUCanberra Hospital · AURenji Hospital · CNShanghai Jiao Tong University · CNCincinnati Children's Hospital Medical Center · USCornell University · USHudson Institute of Medical Research · AUIcahn School of Medicine at Mount Sinai · USNewYork–Presbyterian Hospital · USWalter and Eliza Hall Institute of Medical Research · AU

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6M
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
STRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0M
NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U54 HG006542NHGRI NIH HHS UM1 HG006542NINDS NIH HHS R35 NS105078
6 · The paper itself

Abstract

Although circumstantial evidence supports enhanced Toll-like receptor 7 (TLR7) signalling as a mechanism of human systemic autoimmune disease

Indexed as

Gain of Function MutationLupus Erythematosus, SystemicToll-Like Receptor 7AnimalsAutoimmunityB-LymphocytesCyclic GMPGuanosineHumansMiceMyeloid Differentiation Factor 88Cyclic GMPGuanosineMYD88 protein, humanMyeloid Differentiation Factor 88TLR7 protein, humanToll-Like Receptor 7

Identifiers

PMID35477763
PMCPMC9095492
OpenAlexW4225095275

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.