Hemophagocytic lymphohistiocytosis in a patient with CD3δ deficiency
Why this work is in the frame
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Bibliographic record
Abstract
Introduction: Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening inflammatory process that has been linked to abnormal cytotoxic T-cell and natural killer (NK) cell function. We report on the first case of severe combined immunodeficiency (SCID) caused by a CD3δ mutation presenting with HLH in a female of Mennonite descent. Case Description: A Low-German-speaking Mennonite female with past medical history of eczema, mouth sores, and refractory oral and diaper candidiasis presented at the age of 6 months with vomiting, diarrhea, and lethargy. The patient developed HLH that was refractory to treatment and led to multi-organ failure. Immunological evaluation was diagnostic for SCID and post-mortem genetic testing confirmed a homozygous mutation in CD3δ that was previously described in Mennonites. Method: Targeted molecular testing for CD3δ deficiency confirmed a homozygous C-to-T transition at nucleotide position 202, predicting a premature stop codon, with a truncation at residue 68 (R68X) in the extracellular domain of the protein. Discussion: Many primary immunodeficiency diseases (PID) that affect cytotoxic T cells and NK cells have presented with HLH. However, a growing number of PID with no obvious NK-cell defect have also been found to predispose patients to HLH, suggesting that failure of NK activity is not the only mechanism leading to this unusual form of inflammation. Conclusion: CD3δ is known to be critical for T-cell but not NK-cell development, which may suggest an alternate mechanism for overwhelming inflammation leading to HLH. Statement of novelty: This is the first case report of CD3δ deficiency presenting with HLH.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| 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 it