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Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway
Tom Le Voyer, Adrian Gervais, Jérémie Rosain, Audrey Parent, Axel Cederholm, Darawan Rinchai, Lucy Bizien, Gonca Hancıoğlu, Quentin Philippot, M Guèye, Majistor Raj Luxman, Maglorius Renkilaraj, Masato Ogishi, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia M. Delmonte, Gabriele Müller, Bärbel Keller, Julio César Orrego, William Alexander Franco Gallego, Tamar Rubin, Melike Emiroğlu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda‐Guillén, David I. Berrios, Linda Vong, Connie Katelaris, Peter Mustillo, Johannes Rädler, Jonathan Bohlen, Jale Bengi Çelik, Camila Astudillo, Sarah Winter, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan‐Hammarström, Yu Zhang, Lindsey B. Rosen, Steven M. Holland, Heather Kenney, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini S. Abraham, Vassilios Lougaris, Fabian Hauck, Anna Šedivá, Faranaz Atschekzei, M. Cecilia Poli, Mary Slatter, Boaz Palterer, Michael D. Keller, Alberto Pinzón‐Charry, Anna Sullivan, Luke Droney, Daniel Suan, Nathalie Aladjidi, Estibaliz Lazaro, José Roberto Fernández Franco, Sevgi Keleş, Marion Malphette, Marlène Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan İkincioğulları, Mohammad Shahrooei, Fatih Çelmeli, Patrick Frosk, Christopher C. Goodnow, Paul Gray, Alexandre Bélot, Hye Sun Kuehn, Sergio D. Rosenzweig, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, G. Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, F. Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham‐Rundles, Frédéric Rieux‐Laucat, Stuart G. Tangye, Cristina Sobacchi, Rainer Döffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa L. Bryant, Sophie Trouillet‐Assant, Luigi D. Notarangelo, Helen C. Su, Bénédicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kämpe, Paul Bastard, Chaim M. Roifman, Nils Landegren, Mark S. Anderson, Jean‐Laurent Casanova, Anne Puel
Bibliographic record
Venuenot available
Typepreprint
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsHospital for Sick ChildrenUniversity of TorontoSickKids FoundationUniversity of Manitoba
FundersNHLBI Division of Intramural ResearchNational Center for Advancing Translational SciencesHonjo International Scholarship FoundationScience for Life LaboratoryHoward Hughes Medical InstituteGeorgia Clinical and Translational Science AllianceVetenskapsrådetNational Cancer InstituteKnut och Alice Wallenbergs StiftelseFondation pour la Recherche MédicaleEuropean CommissionAssistance Publique - Hôpitaux de ParisBundesministerium für Bildung und ForschungElse Kröner-Fresenius-StiftungInstitut des maladies génétiques ImagineMinistère de l'Enseignement supérieur, de la Recherche et de l'InnovationInstitut National de la Santé et de la Recherche MédicaleFondation du SouffleDivision of Intramural Research, National Institute of Allergy and Infectious DiseasesGöran Gustafssons StiftelserSt. Giles FoundationNational Institutes of HealthFisher Center for Alzheimer's Research FoundationAgence Nationale de la RechercheNational Institute of Allergy and Infectious Diseases
KeywordsAutoantibodyImmunologyBiologyMedicineAntibody
Abstract
Patients with inborn errors of the alternative NF-κB pathway have low thymic AIRE expression, leading to the development of auto-Abs neutralizing type I IFNs, and severe viral diseases.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.270
Threshold uncertainty score1.000
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.027
GPT teacher head0.254
Teacher spread0.228 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
Study designBench or experimental
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations2
Published2023
Admission routes1
Has abstractyes