Evidence map›Paper›PMID 41743833›Full record

ArticleJournal of human immunity2026

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus.

Aiswarya Sethumadhavan, Charles Mariasoosai, Natsuko Yamakawa, Nicolas Chamberlain, Matthew A Deardorff, Shintaro Funaki, Takaki Asano, Jean-Laurent Casanova, Hedieh Torabifard, Bertrand Boisson and 1 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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Journal of human immunity · 2026
    Article
  3. Article
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

11 authors.

Aiswarya Sethumadhavan *Department of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, USA.ORCID https://orcid.org/0000-0002-8367-0055
Charles Mariasoosai *Department of Chemistry and Biochemistry, The University of Texas at Dallas, Richardson, TX, USA.ORCID https://orcid.org/0009-0002-8890-1948
Natsuko Yamakawa *Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA.ORCID https://orcid.org/0000-0001-8388-9527
Nicolas ChamberlainDepartment of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, USA.ORCID https://orcid.org/0009-0002-8063-6000
Matthew A DeardorffDepartments of Pathology and Pediatrics, Children's Hospital Los Angeles Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.ORCID https://orcid.org/0000-0002-1542-1305
Shintaro FunakiDepartment of Pediatrics, Hiroshima University Graduate School of Medicine and Health Sciences, Hiroshima, Japan.ORCID https://orcid.org/0009-0007-3426-5532
Takaki AsanoDepartment of Pediatrics, Hiroshima University Graduate School of Medicine and Health Sciences, Hiroshima, Japan.ORCID https://orcid.org/0000-0003-1424-2433
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID https://orcid.org/0000-0002-7782-4169
Hedieh TorabifardDepartment of Chemistry and Biochemistry, The University of Texas at Dallas, Richardson, TX, USA.ORCID https://orcid.org/0000-0003-0687-6858
Bertrand BoissonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID https://orcid.org/0000-0001-5240-3555
Eric MeffreDepartment of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, USA.ORCID https://orcid.org/0000-0003-4326-0171

Funding

Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CASANOVA, JEAN-LAURENT · 2004 to 2021
$29.8M
Computational framework to investigate the inorganic ion transportersR35GM155106 · NIGMS · UNIVERSITY OF TEXAS DALLAS · PI Hedieh Torabifard · 2024 to 2026
$1.2M
NIAID NIH HHS P01 AI061093NIGMS NIH HHS R35 GM155106
6 · The paper itself

Abstract

Gain-of-function (GOF) variants in human TLR7 have recently been reported in 11 cases, six of which were diagnosed with systemic lupus erythematosus (SLE). We have identified the X-linked L840R

Identifiers

PMID41743833
PMCPMC12931374

What OpenQuestion holds

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Read underepoch 390

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.