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Record W3120175537 · doi:10.1007/s10875-020-00930-3

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

2021· article· en· W3120175537 on OpenAlexfundno aff
Carmen Oleaga‐Quintas, Edgar Borges de Oliveira-Júnior, Jérémie Rosain, Franck Rapaport, Caroline Deswarte, Antoine Guérin, Sairaj Munavar Sajjath, Yu Zhou, Stéphane Marot, Claire Lozano, Lídia Branco, Nuria Fernández‐Hidalgo, D. Betty Lew, Anne-Sophie Brunel, Caroline Thomas, É. Launay, Andrés A. Arias, Alexis Cuffel, Vanesa Cunill Monjo, Anna‐Lena Neehus, Lino Marques, Manon Roynard, Marcela Moncada‐Vélez, Bengü Gerçeker, Roger Colobrán, Marie‐Gabrielle Vigue, Gabriela López‐Herrera, Laura Berrón‐Ruiz, Nora Hilda Segura Méndez, Patricia María O’Farrill-Romanillos, Tom Le Voyer, Anne Puel, Christine Bellanné‐Chantelot, Kacy A. Ramirez, Lazaro Lorenzo, Noé Ramirez Alejo, Rebeca Pérez de Diego, Antônio Condino‐Neto, Fethi Mellouli, Carlos Rodríguez‐Gallego, Torsten Witte, José Luis Franco, Mariana Jobim, Stéphanie Boisson‐Dupuis, Éric Jeziorski, Claire Fieschi, Guillaume Vogt, Jean Donadieu, Marlène Pasquet, Julia Vasconcelos, F. Ömür Ardeniz, Mónica Martínez‐Gallo, Régis A. Campos, Luiz Fernando Job Jobim, Rubén Martínez‐Barricarte, Kang Liu, Aurélie Cobat, Laurent Abel, Jean‐Laurent Casanova, Jacinta Bustamante

Bibliographic record

VenueJournal of Clinical Immunology · 2021
Typearticle
Languageen
FieldMedicine
TopicMetastasis and carcinoma case studies
Canadian institutionsnot available
FundersEuropean Regional Development FundInstituto de Salud Carlos IIINational Institutes of HealthNational Institute of Allergy and Infectious DiseasesUniversité Paris DescartesInstituto Colombiano de Crédito Educativo y Estudios Técnicos en el ExteriorHospital for Sick ChildrenSt. Giles FoundationFundação de Amparo à Pesquisa do Estado de São PauloAgence Nationale de la RechercheConselho Nacional de Desenvolvimento Científico e TecnológicoInstitut National de la Santé et de la Recherche MédicaleDepartamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS)Institut des maladies génétiques Imagine
KeywordsPenetranceHaploinsufficiencyPrimary immunodeficiencyGeneticsBiologyBronchiectasisGermline mutationMedicineImmunologyMutationPhenotypeInternal medicineGene

Abstract

fetched live from OpenAlex
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 imitation

Not 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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.020

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0060.001

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 head0.089
GPT teacher head0.412
Teacher spread0.323 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine 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

Citations49
Published2021
Admission routes1
Has abstractno

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