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Record W4292791533 · doi:10.1016/j.cgh.2022.07.030

Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy

2022· article· en· W4292791533 on OpenAlexfundno aff
Fabienne Charbit‐Henrion, Manon Haas, Stanislas Chaussade, Christophe Cellier, Nadine Cerf–Bensussan, Georgia Malamut, Shérine Khater, Anis Khiat, Sascha Cording, Marianna Parlato, Marie‐Agnès Dragon‐Durey, Frédéric Beuvon, Nicole Brousse, Benoît Terris, Capucine Pïcard, Mathieu Fusaro, Frédéric Rieux‐Laucat, Marie‐Claude Stolzenberg, Anne‐Sophie Jannot, Alexis Mathian, Matthieu Allez, Marion Malphettes, Claire Fieschi, Alexandre Aubourg, Camille Zallot, Xavier Roblin, Véred Abitbol, Arthur Belle, Pauline Wils, Morgane Cheminant, Tamara Matysiak‐Budnik, Lucine Vuitton, Philippe Pouderoux, Laurent Abramowitz, Martin Castelle, Felipe Suárez, Olivier Hermine, Frank M. Ruemmele, Luc Mouthon

Bibliographic record

VenueClinical Gastroenterology and Hepatology · 2022
Typearticle
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsnot available
FundersUniversité de ParisInstitut National de la Santé et de la Recherche MédicaleAssistance publique-Hôpitaux de ParisAgence Nationale de la RechercheInstitut des maladies génétiques ImagineRare Disease Foundation
KeywordsMedicineEnteropathyHypogammaglobulinemiaAutoimmunityProtein losing enteropathyAntibodyRefractory (planetary science)ImmunologyDiarrheaBiomarkerGastroenterologyCohortInternal medicineDisease

Abstract

fetched live from OpenAlex

Autoimmune enteropathy (AIE) is a severe form of enteropathy characterized by chronic diarrhea refractory to any exclusion diet and associated with autoimmunity.1,2 Despite this clear definition, diagnosis is challenging. The presence of antienterocyte antibodies against the AIE-75kDa antigen3 is a strong but inconstant biomarker. In a recent cohort of 40 AIE patients, antienterocyte antibodies were reported in only 14% (4/28) of the cases, likely caused by the high frequency of patients with primary hypogammaglobulinemia.

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 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)0.002
metaresearch head score (Gemma)0.008
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.011
Threshold uncertainty score0.038

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.008
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0020.002
Open science0.0010.001
Research integrity0.0020.005
Insufficient payload (model declined to judge)0.0110.007

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 head0.026
GPT teacher head0.287
Teacher spread0.261 · 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 designCase report
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

Citations24
Published2022
Admission routes1
Has abstractyes

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