Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence
Bibliographic record
Abstract
CD1a molecules on skin Langerhans cells that present self and microbial lipids to T cells have been implicated in the maintenance of skin barrier function. We identified two healthy Vietnamese siblings with a complete lack of surface CD1a expression. Both individuals showed a rare single nucleotide polymorphism (SNP) rs761269454 resulting in a Leu to Pro mutation in the α3 domain of CD1a. Recombinant CD1a-L285P expressed in human cell lines reproduced the defect observed in primary DCs. The defect was only apparent when another rare SNP, rs538916791, introduced a stop codon in the second allele of CD1a. The lack of CD1a expression did not result in any apparent skin abnormalities, or in systemic immune impairment in either individual.
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How this classification was reachedexpand
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 | 0.002 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.004 |
| 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; both teacher heads agree on what is shown here.
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".