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Record W4412749151 · doi:10.70962/jhi.20250027

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging

2025· article· en· W4412749151 on OpenAlexaff
Emilie P. Buddingh, Mary Slatter, Juan Carlos Aldave Becerra, Laura Alonso, Erik G. J. von Asmuth, Safa Barış, Oscar De La Calle-Martin, Alice Chan, Su‐Wan Bianca Chan, Shanmuganathan Chandrakasan, Deepak Chellapandian, Jasmeen Dara, Susan Farmand, Anders Fasth, Lisa Forbes Satter, Renata Formánková, Eyal Grunebaum, Steven J. Keogh, Ayça Kıykım, Jörn‐Sven Kühl, Alexandra Laberko, Timothy Ronan Leahy, Caroline A. Lindemans, Caridad Martinez, Laura Martínez‐Martínez, William Mitchell, Emma Morris, Joseph H. Oved, Maria Polacik, Jacques G. Rivière, Chaim M. Roifman, Sara Şebnem Kılıç, Ami J. Shah, Linda Vong, Arjan C. Lankester, Michael H. Albert, Bénédicte Neven, Troy R. Torgerson, Jennifer W. Leiding, Catharina Schütz

Bibliographic record

VenueJournal of Human Immunity · 2025
Typearticle
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsHospital for Sick Children
FundersNational Institute of Allergy and Infectious DiseasesNational Institutes of HealthNational Center for Advancing Translational SciencesDeutsche Forschungsgemeinschaft
KeywordsBridging (networking)Gain of functionDiseaseMedicineInternal medicineBiologyComputer scienceGeneticsComputer securityMutationGene

Abstract

fetched live from OpenAlex

) are associated with infections, including chronic mucocutaneous candidiasis and autoimmunity. Morbidity is high, and disease manifestations can be life-threatening. Curative allogeneic hematopoietic stem cell transplantation (HSCT) historically has had poor outcomes. We identified 36 patients with STAT1 GOF disease, receiving 40 HSCT procedures in 2010-2023, in a combined effort of the EBMT-IEWP and the PIDTC. Median age at first transplant was 11 years (range 1 - 33). Indications for HSCT were combined immunodeficiency, severe and/or refractory infections, and autoimmunity. Acute GvHD occurred in 22/40 HSCT procedures; 5 patients suffered from grade III/IV acute GvHD. One patient had chronic GvHD. Overall survival was 72.2%, and event-free survival was 55.6%, markedly improved from an earlier report on HSCT for STAT1 GOF disease. Patients with an HCT-CI score of 1 or higher had worse outcome. Pre-treatment with Janus kinase (JAK) inhibitors was associated with better event-free survival.

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)0.000
metaresearch head score (Gemma)0.000
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: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.003

Distilled classifier scores by category (both heads)

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

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 head0.014
GPT teacher head0.280
Teacher spread0.266 · 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

Citations8
Published2025
Admission routes1
Has abstractyes

Explore more

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