An Adult Fatal Case with a <i>STAT1</i> Gain-of-function Mutation Associated with Multiple Autoimmune Diseases
Bibliographic record
Abstract
Primary immunodeficiency diseases (PID) are a heterogeneous group of diseases with variable genetic etiologies. Although immunodeficiency is a hallmark of susceptibility to infection, autoimmunity is clearly a prevalent feature1. Some PID, including common variable immunodeficiency (CVID), are often adult-onset conditions2. Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 ( STAT1 ) gene have been identified as underlying causes of chronic mucocutaneous candidiasis, a childhood-onset PID3; however, its comprehensive clinical features and outcomes remain undefined. We present a patient with a STAT1 GOF mutation associated with multiple autoimmune diseases, including Takayasu arteritis (TA), a previously unreported phenotype of STAT1 GOF mutations. We obtained ethics approval for our study from the ethical committee of the Faculty of Medicine, Oita University, Japan (ethics approval number: 1387). Written informed consent was obtained from the patient’s family to publish the material. The patient was a 25-year-old Japanese woman diagnosed at 8 years of age with autoimmune hypothyroidism and treated with hormonal substitution therapy. She lacked a familial history of associated PID and remained symptom-free throughout childhood and adolescence under hormonal therapy. At 21 years, TA was accidentally diagnosed because of a pulseless right radial artery, with no other symptoms. TA-associated HLA-B674 was positive. Damaged large vessels from neck to lower … Address correspondence to K. Maeshima, Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, 1-1 Idaigaoka, Hasama-machi, Yufu, Oita, 879-5593, Japan. E-mail: maeshima{at}oita-u.ac.jp
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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 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.002 |
| 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".