Evidence map›Paper›PMID 42620509›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation.

Farzana Bhuyan, Clinton Bradfield, Amitava Roy, Adriana A de Jesus, Mohammad Arif Rahman, Benjamin Schwarz, Anjelika Gasilina, Andre Rastegar, Gaurav Sachin, Christopher L Friend and 19 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

29 authors.

Farzana BhuyanTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.ORCID 0000-0003-2316-1221
Clinton BradfieldSignaling systems Section,Laboratory of Immune System Biology, National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.
Amitava RoyBioinformatics and Computational Biosciences Branch, Rocky Mountain Laboratories, NIAID, National Institutes of Health, Hamilton, MT, USA.
Adriana A de JesusTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.ORCID 0000-0001-8966-8362
Mohammad Arif RahmanAnimal Models and Retroviral Vaccines Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-6120-8943
Benjamin SchwarzResearch Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT, USA.
Anjelika GasilinaMolecular Cell Biology Laboratory, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Andre RastegarTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.
Gaurav SachinTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.
Christopher L FriendTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.
Kanika ChopraTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.
Kat UssTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.
Ryan KissingerResearch Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT, USA.
Sara AlehashemiTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.
Sundar GanesanResearch Technology Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Nathan T BrandesResearch Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT, USA.
Ian S LacroixResearch Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT, USA.
Vinod NairResearch Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT, USA.
Jacqueline M LeungResearch Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT, USA.
Clayton WinklerNeuroimmunology Section, Laboratory of Neurological Infections and Immunity (LNII), Rocky Mountain Laboratories (RML), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Hamilton, MT, USA.
Juraj KabatResearch Technology Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Steven M HollandImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and infectious Disease, NIH, Bethesda, MD, USA.
Philip J KahnDivision of Pediatric Rheumatology, Hassenfeld Children's Hospital at NYU-Langone, New York, NY, USA.
Douglas B KuhnsApplied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
John HammerMolecular Cell Biology Laboratory, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Ronit HerzogDepartment of Pediatrics, Division of Allergy, Immunology and Pulmonology, Weill Medical College of Cornell University, New York, NY, USA.
Deborah ConsoliniDepartment of Pediatrics, Diagnostic Referral Division, Nemours Children's Health, Wilmington, DE, USA.
Iain FraserSignaling systems Section,Laboratory of Immune System Biology, National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.
Raphaela Goldbach-ManskyTranslational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and infectious Disease (NIAID)/ NIH, Bethesda, MD, USA.ORCID 0000-0001-7865-5769

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

De novo mutations underlying early-onset systemic autoinflammatory diseases have identified key regulators of innate immunity, including pathways that drive IL-1-mmediated inflammation. Here we describe two unrelated girls presenting in infancy with systemic inflammation and sterile lung abscesses, who harbor the same de novo gain-of-function mutation in dysferlin (

Identifiers

PMID42620509
PMCPMC13484800

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.