Abstracts from The Immunodeficiency Canada–CSACI symposium
Bibliographic record
Abstract
The immunological manifestation of significant T cell deficiency led to the decision to preform HSCT.At the age of 16 months our patient underwent HSCT with peripheral blood stem cells from a 9/10 HLA-matched unrelated donor.She received myeloablative conditioning with busulfan and cyclophosphamide.Graft-versus-host disease (GvHD) prophylaxis consisted of alemtuzumab, cyclosporine and methylprednisolone.She continued to receive her antimycobacterial treatment.She had neutrophil engraftment on day +17, and had an unremarkable post-transplant course.At 6 months post-transplant, she developed acute GvHD of the skin and pancytopenia.She was treated with pulse doses of methylprednisolone with good response.She had an additional episode of hemolytic anemia a year later that was treated with a high dose of intravenous immunoglobulin (IVIg).One and a half years post-transplant she developed alopecia involving approximately 50% of the scalp which resolved with topical steroid treatment.At 2 years post-transplant she achieved full immune reconstitution and we were able to discontinue her IVIg replacement therapy and the antimycobacterial medication.Developmentally, at 4 years of age she still had expressive language delay and had inattentive, impulsive and hyperactive behavior diagnosed as ADHD.Conclusion: This is the first report of a patient of Inuit descent presenting with SCID phenotype due to autosomal recessive mutation in CORO1A.As well, this is the first description of homozygous missense mutations in CORO1A causing Coronin-1A deficiency.Our patient underwent successful HSCT with full immune reconstitution and is currently doing well.Interestingly, she demonstrates developmental delay as well as features of ADHD, which suggests that the decreased coronin-1A expression is the cause for the neurodevelopmental abnormalities.Progressive neurodegenerative manifestations in a patient with STAT1 dysfunction due to a novel mutation in the SH2 domain
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.004 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.105 | 0.024 |
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.
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; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".