← Back to cohort
Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry
Nizar Mahlaoui, Capucine Pïcard, Perrine Bach, Laurence Costes, Virginie Courteille, Anja Ranohavimparany, Alexandre Alcaïs, Jean‐Philippe Jaïs, Alain Fischer, Christine Bellanné‐Chantelot, Jacinta Bustamante, Sylvie Chollet‐Martin, Christian Drouet, Véronique Frémeaux‐Bacchi, Caroline Kannengiesser, Virginie Girardin, Nathalie Lambert, Valérie Proulle, Jérémie Rosain, Marie José Stasia, Dominique Stoppa Lyonnet, Ioannis Théodorou, Wadih Abou‐Chahla, D. Adoué, Nathalie Aladjidi, Zahir Amoura, Corinne Armari‐Alla, Brigitte Bader‐Meunier, Vincent Barlogis, Sophie Bayart, Yves Bertrand, Stéphane Blanche, Damien Bodet, Bernard Bonnotte, Raphaël Borie, Patrick Boutard, Claire Briandet, Jean‐Paul Brion, Jacques Brouard, Liana Carausu, Émilie Catherinot, Nathalie Cheikh, Louis‐Jean Couderc, Pierre Cougoul, Gérard Couillault, Geneviève de Saint Basile, Catherine Devoldère, Anne Deville, Éric Doré, I. Durieu, Natacha Entz Werle, Claire Fieschi, Fanny Fouyssac, Pierre Frange, Vincent Gajdos, Lionel Galicier, Virginie Gandemer, Martine Gardembas, C. Gaud, B. Grosbois, Aurélien Guffroy, Corinne Guitton, Gaëlle Guillerm, É. Hachulla, M. Hamidou, Sophie Haro, Yves Hatchuel, Olivier Hermine, C. Hoarau, Bruno Hoën, A. Hot, S. Humbert, Arnaud Jaccard, Serge Jacquot, R. Jaussaud, Pierre-Yves Jeandel, Éric Jeziorski, Kamila Kébaïli, Anne‐Sophie Korganow, Olivier Lambotte, Fanny Lanternier, C. Larroche, Alain Le Quellec, Emmanuelle Le Moigne, Vincent Le Moing, David de Launay, Yvon Lebranchu, Marc Lecuit, Guillaume Lefèvre, Richard Lemal, Valérie Li-Thiao-Te, Olivier Lortholary, Marion Malphettes, Aude Marie‐Cardine, Nicolas Martin Silva, A. Masseau, Christian Massot, Françoise Mazingue, Étienne Merlin, Gérard Michel, Frédéric Millot, Béatrice Monlibert, Fabrice Monpoux, Despina Moshous, Luc Mouthon, Martine Münzer, Bénédicte Neven, Raphaëlle Nové-Josserand, D. Nouar, Éric Oksenhendler, O Marie, Anne Pagnier, Marlène Pasquet, Isabelle Pellier, Yves Pérel, Antoinette Perlat, Christophe Piguet, Dominique Plantaz, Pierre Quartier, Frédéric Rieux‐Laucat, P. Roblot, Pierre‐Simon Rohrlich, Bruno Royer, V. Salle, F. Sarrot-Reynauld, Amélie Servettaz, Jean‐Louis Stephan, N. Schleinitz, Felipe Suárez, L. Swiader, Sophie Taque, Caroline Thomas, Olivier Tournilhac, C. Thumerelle, Jean-Pierre Vannier, Jean‐François Viallard
Bibliographic record
VenueJournal of Allergy and Clinical Immunology · 2019
Typeletter
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsMcGill University
FundersShireCSL BehringGlaxoSmithKline
KeywordsPrimary immunodeficiencyMedicineGenetic testingPediatricsGenetic counselingNewborn screeningDiseaseFamily medicineInternal medicineGeneticsBiology
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 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)0.002
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Science and technology studies, Research integrity
Consensus categoriesResearch integrity
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.609
Threshold uncertainty score1.000
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.003 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.002 | 0.000 |
| Research integrity | 0.002 | 0.004 |
| 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 head0.029
GPT teacher head0.274
Teacher spread0.245 · 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; both teacher heads agree on what is shown here.
Study designNot applicable
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
Citations26
Published2019
Admission routes1
Has abstractno