Evidence map›Paper›PMID 41846847›Full record

ArticleJournal of human immunity2026

Novel TLR7 gain-of-function variant and review of the associated disease spectrum.

Maud Tusseau, Claire Desvignes, Guilaine Boursier, Clémentine Fort, Clémence David, Marie-Louise Frémond, Sarah Benezech, Samira Khaldi-Plassart, Antonin Chenel, Jade Cognard and 8 more

Abstract read
In one paragraph

Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Article
  2. TLR8 gain-of-function syndrome.Journal of human immunity · 2026
    Article
  3. Review
  4. Review
  5. Human CD21Journal of human immunity · 2026
    Review
  6. Journal of human immunity · 2026
    Article
  7. Article
  8. 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

18 authors.

Maud Tusseau *Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0009-0001-2699-3827
Claire Desvignes *Pediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.ORCID https://orcid.org/0009-0006-2849-7954
Guilaine BoursierGCS AURAGEN, Lyon, France.ORCID https://orcid.org/0000-0002-2903-3135
Clémentine FortPediatric Neurology, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.ORCID https://orcid.org/0009-0009-7572-6221
Clémence DavidLaboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Inserm UMR1163, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-6455-3251
Marie-Louise FrémondLaboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Inserm UMR1163, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0002-2798-9141
Sarah BenezechDepartment of Medical Genetics, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.ORCID https://orcid.org/0000-0002-9587-3896
Samira Khaldi-PlassartInserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0009-0003-1485-2634
Antonin ChenelInserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0009-0001-0947-235X
Jade CognardInserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0000-0002-1255-7522
Liliane KhoryatiInserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0000-0002-5817-8640
Jonathan SormaniInserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0000-0002-2814-9830
Frédérique DijoudPathology Department, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.ORCID https://orcid.org/0000-0001-5774-1027
David GoncalvesPathology Department, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.ORCID https://orcid.org/0000-0002-7707-0918
Anais NombelInserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0009-0007-8564-9034
Maurine JouretPediatric Nephrology, Rheumatology, Dermatology Department, National Reference Centre on Rheumatic, Autoimmune Diseases in Children and Type I Interferonopathies, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon, France.ORCID https://orcid.org/0009-0002-5638-1933
Anne-Laure Mathieu *Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0000-0002-2893-7001
Alexandre Belot *Inserm U1111, CNRS, UMR5308, ENS of Lyon, International Center of Infectiology Research, Claude Bernard University Lyon 1, Lyon, France.ORCID https://orcid.org/0000-0003-4902-5332

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Early-onset systemic lupus erythematosus (SLE) is frequently associated with a more severe phenotype and may be linked to monogenic causes in at least 10% of all juvenile SLE cases. Recent advances in immunogenetics have identified Mendelian variants linked to inborn errors of immunity, underlying SLE. Toll-like receptor 7 (TLR7), an endosomal RNA sensor, has emerged as a key contributor to lupus pathogenesis through aberrant activation. We report a novel P435S gain-of-function (GOF) variant in

Identifiers

PMID41846847
PMCPMC12991832

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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.