Evidence map›Paper›PMID 42782216›Full record

ArticleJournal of human immunity2026

Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy.

Jenny A Patel, Nermina Saucier, Hwi M Gil, Elizabeth G Schmitz, Marianna B Ruzinova, Ayah Saffaf, Morey Blinder, Neha Mehta-Shah, Zachary D Crees, Megan A Cooper 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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. TLR8 gain-of-function syndrome.Journal of human immunity · 2026
    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.

Jenny A PatelDivision of Rheumatology and Immunology, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0009-0004-5215-1393
Nermina SaucierDivision of Rheumatology and Immunology, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0009-0004-8992-1427
Hwi M GilDivision of Rheumatology and Immunology, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0002-3722-4302
Elizabeth G SchmitzDivision of Rheumatology and Immunology, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0002-8222-5267
Marianna B RuzinovaDepartment of Pathology and Immunology, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0002-0833-8335
Ayah SaffafDivision of Allergy and Immunology, Department of Medicine, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0009-0004-1077-5798
Morey BlinderDivision of Hematology, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0003-3356-0824
Neha Mehta-ShahDivision of Oncology, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0001-5744-0670
Zachary D CreesDivision of Oncology, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0003-3215-8454
Megan A CooperDivision of Rheumatology and Immunology, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0002-5696-172X
Ofer ZimmermanDivision of Allergy and Immunology, Department of Medicine, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0002-1684-4684

Funding

TRAINING PROGRAM IN IMMUNOLOGY AND IMMUNOGENETICST32AI007163 · NIAID · WASHINGTON UNIVERSITY · PI Kenneth M Murphy, Kodi S Ravichandran · 1985 to 2026
$14.8M
Somatic variants as drivers of genetic errors of immunityP01AI186771 · NIAID · WASHINGTON UNIVERSITY · PI Dusan Bogunovic, Megan Anne Cooper · 2025 to 2026
$7.5M
TRAINING IN THE IMMUNOLOGY OF RHEUMATIC DISEASEST32AR007279 · NIAMS · WASHINGTON UNIVERSITY · PI Megan Anne Cooper, Deborah J Lenschow · 1986 to 2026
$6.0M
Pediatric Infectious Diseases and Immunity Training ProgramT32AI106688 · NIAID · WASHINGTON UNIVERSITY · PI Megan Anne Cooper, DAVID HUNSTAD · 2014 to 2026
$1.9M
Blood Cancer UnitedNIAID NIH HHS P01 AI186771NIAID NIH HHS T32 AI007163NIAID NIH HHS T32 AI106688NIAMS NIH HHS T32 AR007279NIH HHS P01AI186771NIH HHS T32AI007163NIH HHS T32AI106688NIH HHS T32AR007279St. Louis Children's HospitalWashington University in St. Louis
6 · The paper itself

Abstract

We report severe neutropenia in a 77-year-old female with mosaic TLR8 gain-of-function due to a novel variant. Treatment with ruxolitinib, prednisone, and GM-CSF resulted in clinical improvement. This case expands the phenotypic spectrum beyond pediatric and male cohorts, highlighting mosaicism in late-onset immune dysregulation.

Identifiers

PMID42782216
PMCPMC13603065

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.