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Record W1978660935 · doi:10.1182/blood-2011-12-396879

Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

2012· article· en· W1978660935 on OpenAlexaff
Amel Hassan, Claire Booth, Alex Brightwell, Zoe Allwood, Paul Veys, Kanchan Rao, Manfred Hönig, Wilhelm Friedrich, Andrew R. Gennery, Mary Slatter, Robbert G. M. Bredius, Andrea Finocchi, Caterina Cancrini, Alessandro Aiuti, Fulvio Porta, Arnalda Lanfranchi, Michela Ridella, Colin G. Steward, Alexandra H. Filipovich, Rebecca Marsh, Victoria Bordon, Saleh Al‐Muhsen, Hamoud Al‐Mousa, Zobaida Alsum, Hasan Al‐Dhekri, Abdulaziz Al Ghonaium, Carsten Speckmann, Alain Fischer, Nizar Mahlaoui, Kim E. Nichols, Eyal Grunebaum, Daifulah Al Zahrani, Chaim M. Roifman, Jaap Jan Boelens, E. Graham Davies, Marina Cavazzana, Luigi D. Notarangelo, H. Bobby Gaspar

Bibliographic record

VenueBlood · 2012
Typearticle
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsHospital for Sick Children
Fundersnot available
KeywordsSevere combined immunodeficiencyAdenosine deaminaseAdenosine deaminase deficiencyHematopoietic stem cell transplantationTransplantationMedicineHematopoietic cellInternal medicineImmunologyImmune systemT cellStem cellOncologyHaematopoiesisBiologyAdenosineIn vivo

Abstract

fetched live from OpenAlex

Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a permanent cure of SCID; however, little data are available on outcome of HCT for ADA-SCID in particular. In this multicenter retrospective study, we analyzed outcome of HCT in 106 patients with ADA-SCID who received a total of 119 transplants. HCT from matched sibling and family donors (MSDs, MFDs) had significantly better overall survival (86% and 81%) in comparison with HCT from matched unrelated (66%; P < .05) and haploidentical donors (43%; P < .001). Superior overall survival was also seen in patients who received unconditioned transplants in comparison with myeloablative procedures (81% vs 54%; P < .003), although in unconditioned haploidentical donor HCT, nonengraftment was a major problem. Long-term immune recovery showed that regardless of transplant type, overall T-cell numbers were similar, although a faster rate of T-cell recovery was observed after MSD/MFD HCT. Humoral immunity and donor B-cell engraftment was achieved in nearly all evaluable surviving patients and was seen even after unconditioned HCT. These data detail for the first time the outcomes of HCT for ADA-SCID and show that, if patients survive HCT, long-term cellular and humoral immune recovery is achieved.

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)0.001
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 score0.000
Threshold uncertainty score0.002

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
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)0.0000.000

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 head0.012
GPT teacher head0.228
Teacher spread0.216 · 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

Citations170
Published2012
Admission routes1
Has abstractyes

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