Molecular Genetics of the <scp>IPEX</scp> Syndrome
Bibliographic record
Abstract
Abstract IPEX syndrome is a rare X‐linked syndrome caused by mutations in the FOXP3 gene, which encodes the FOXP3 protein. FOXP3 is an essential transcription factor for the development and function of regulatory T (Treg) cells, a subset of CD4 + T cells responsible for the maintenance of immune tolerance. IPEX presents early in life with severe generalised autoimmunity and failure to thrive. Unless promptly diagnosed and properly treated, most affected children die within the first 2 years of life. Although several immunosuppressive regimens have been used to control IPEX, hematopoietic stem cell transplantation remains the only curative option. Inspired by the clinical heterogeneity observed in IPEX patients, valuable progress has been made towards a better understanding of the complex interactions of FOXP3 and its multi‐faceted role in orchestrating the different aspects of Treg functions. Such advances will aid in the development of sensitive diagnostic tools and targeted therapeutic strategies with potential applications extending beyond IPEX. Key Concepts IPEX is an X‐linked primary immunodeficiency syndrome in which Treg cells are unable to control auto‐reactive immune cells IPEX may be significantly under‐diagnosed More than 60 FOXP3 mutations reported to cause IPEX with various degrees of severity IPEX research has contributed significantly to our knowledge of Treg biology Efforts are focused on understanding the specific processes affected by individual mutation in order to develop mutation‐specific therapeutic strategies as well as more generalisable strategies for modulation of Treg activity
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
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".