P274: A case of IPEX syndrome caused by a novel mutation in FOXP3 gene, and exhibited abnormal osseous findings
Bibliographic record
Abstract
IPEX (Immune Dysregulation Polyendocrinopathy Enteropathy X-linked) syndrome is a genetic disorder characterized by immune system dysfunction. Pathogenic variants in FOXP3 cause improper functioning of regulatory T cells (Tregs) resulting autoimmune symptoms such as enteropathy, type1 diabetes mellitus, autoimmune thyroid disease, dermatitis, cytopenia, and nephropathy. The patient was born via emergency cesarean section to a 32-year-old mother who had a family history of recurrent male fetal demise. Prenatal whole exome sequencing revealed a novel genetic variant in FOXP3 (NM_014009.4:c.142C>T, p.(Arg48*)), which was classified as 'likely pathogenic.' The mother was enrolled into research and, throughout the pregnancy, was treated with sirolimus for fetal immunosuppression. The patient was born prematurely at 28 weeks of gestation and treated with intravenous immunoglobulin (IVIG), hydrocortisone, and sirolimus. The infant developed severe enteropathy with bloody diarrhea early in life. His blood glucose levels remained normal. Thyroid function tests, including thyroid- TSH, Free T4, and Free T3, were also within the normal range, and TPO antibody was negative. GAD-65 antibody was canceled due to an insufficient sample. Radiological findings of the proximal and distal humeral diaphyses showed abnormal heterogeneous density and areas of sclerosis, which are inconsistent with the typical bone disease of prematurity. Despite medical interventions the patient passed away at age three weeks. We are reporting a novel FOXP3 variant and a unique presentation of IPEX syndrome. Prenatal sirolimus did not prevent a severe phenotype. The absence of other endocrinopathies, despite the severe clinical presentation, is also distinct from the typical IPEX syndrome manifestations. Additionally, to our knowledge osseous changes have not been described and could represent an atypical manifestation associated with the novel FOXP3 variant.
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".