Hyperimmunoglobulinemia in Pediatric-onset Type 1 Gaucher Disease and Effects of Enzyme Replacement Therapy
Bibliographic record
Abstract
Hyperimmunoglobulinemia, and other manifestations of B-cell stimulation, have been reported frequently in adults with type 1 Gaucher disease. We investigated the occurrence of hyperimmunoglobulinemia in 23 pediatric patients with type 1 Gaucher disease and studied the effects of early initiation of alglucerase/imiglucerase therapy on these abnormalities. We found that the incidences of increased levels of IgG, IgA, and IgM at pediatric age, as observed in our patients, were 3.2-fold, 4.3-fold and 5.1-fold higher, respectively, than the incidence in adult patients, and correspond with disease severity. Seventy-one percent of our pediatric patients had elevation of more than 1 immunoglobulin isotype, and 38% had elevations in all 3 isotypes. With sustained enzyme replacement therapy, substantial improvement, or normalization of IgA and IgM levels were obtained in most patients, while decline in IgG levels was less likely to occur. The presence of hyperimmunoglobulinemia in the majority of our pediatric patients suggests that early-onset production of immunostimulatory mediators by activated macrophages may be an important contributing factor, rather than disarrangements caused by long-standing glucocerebrosidase accumulation. In theory, early enzyme replacement therapy initiation may prevent antigenic stimulation and cytokine production, and reduce hyperimmunoglobulinemia and lymphatic neoplastic diseases in patients with type 1 Gaucher disease.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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.
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".