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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, M.R. Smith, Alexandre F. Carisey, Alexander Vargas‐Hernández, Manuel Silva‐Carmona, Maximilian Heeg, Anne Rensing‐Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham‐Rundles, Cullen M. Dutmer, Svetlana Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Özen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini‐Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric J. Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John F. Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen C. Su, Sami L. Bahna, Safa Barış, Lisa M. Bartnikas, Amy Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew Cook, Mukesh Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, A. Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédèric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen‐Kosma, Hal M. Hoffman, Luis Ignacio González‐Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj Patel, Tamara C. Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Dinur Schejter, Christine M. Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygüneş, Vincent Barlogis, Ulrich Baumann, John S. Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy Bunin, María Soledad Caldirola, Martin Castelle, Fatih Çelmeli, Louis‐Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Çokuğraş, Niall Conlon, Fionnuala Cox, Étienne Crickx, Buket Dalgıç, Virgil ASH Dalm, Silvia Danielian, Nerea Domínguez‐Pinilla, Tal Dujovny, Mikaël Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura A. Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil D. Jones, Maria Kanariou, Elif Karakoç-Aydıner, Theoni Karamantziani, Charikleia Kelaïdi, Mary T. Keogan, Ayşenur Paç Kısaarslan, Ayça Kıykım, Kosmas Kotsonis, N. B. Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhinа, Nathalie Aladjidi, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matías Oleastro, Alper Özcan, Marlène Pasquet, José Roberto Mendes Pegler, Capucine Pïcard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada‐Espinosa, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frédéric Rieux‐Laucat, Yulia Rodina, Pierre‐Simon Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sarı, Gregory S. Sawicki, Suzanne Schuh, Selma Scheffler‐Mendoza, Oksana Schvetz, Reinhold Schmidt, Klaus Schwarz, Anna Šedivá, Kyle Sinclair, Mary Slatter, John W. Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Ünal, Luciano Urdinez, Felisa Vazquez-Gómez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamín Wright, Ebru Yılmaz, Radana Zachová, Yu Zhang, Mikko Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa Forbes Satter
Bibliographic record
VenueJournal of Allergy and Clinical Immunology · 2022
Typearticle
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsHospital for Sick ChildrenUniversité LavalCentre hospitalier de l'Université Laval
FundersNational Health and Medical Research CouncilTürkiye Bilimsel ve Teknolojik Araştırma KurumuNational Institutes of HealthNational Institute of Allergy and Infectious DiseasesMedical Research CouncilBundesministerium für Bildung und ForschungDeutsche ForschungsgemeinschaftNational Research FoundationWellcome TrustArthritis National Research FoundationBaylor College of MedicineJeffrey Modell Foundation
KeywordsAutoimmunityGain of functionSTAT proteinSTAT3GermlineImmunologyNatural historyDiseaseAutoimmune diseaseMedicineBiologyCancer researchImmune systemGeneticsGeneMutationAntibodyInternal medicine
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.006
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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 head0.015
GPT teacher head0.251
Teacher spread0.235 · 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 source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
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
Citations124
Published2022
Admission routes1
Has abstractno