Autoantibodies in 22q11.2 Deletion Syndrome with and Without Schizophrenia
Bibliographic record
Abstract
Background Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a common congenital primary immune deficiency that typically presents with conotruncal cardiac defects, hypocalcemia, palatal abnormalities, dysmorphic facial features, and diminished T cell numbers. In addition to increased risk of infection, increased rates of autoimmune disease have been associated with this condition. Disease progression can include neuropsychiatric symptoms. Autoimmunity has been linked to psychiatric disease in the general population and in the systemic lupus erythematosus (SLE) population. There is little known about patterns of autoantibodies in 22q11.2DS patients and whether they vary with age and neuropsychiatric symptoms. Methods The study population included children and adults with 22q11.2DS and healthy controls without 22q11.2DS or autoimmune disease. Plasma samples were sent to the University of Texas Southwestern Medical Center for panel IV and superpanel immunoglobulin G (IgG) and immunoglobulin M (IgM) autoantigen microarray. Normalized signal intensity was calculated for each antigen. Two-tailed Student’s t test was used for statistical analysis with Bonferroni correction for multiple hypothesis tests. R and ggplot2 were used for data analysis and heatmap creation. Results Data are available for 50 autoantigens and 80 subjects: 57 patients (29 adults and 28 children) and 23 controls (15 adults and 8 children). 10 adult patients had a diagnosis of schizophrenia. Adults with 22q11.2DS and schizophrenia had significantly elevated IgM and IgG titers to 18 autoantigens compared with all adults (controls and 22q11.2DS patients without schizophrenia), including histone H3, Smith and ribonucleoprotein, centromere proteins A and B, single-stranded deoxyribonucleic acid, and myeloperoxidase. Anti-histone H1 and H2A IgG and IgM titers were significantly higher in child patients; anti-histone H2B and myosin IgM titers were also significantly higher in child patients. About half of autoantigens tested had significantly lower titers in child patients compared with child controls (26 for IgG and 23 for IgM). IgG and IgM titers to IL-6 were lower in patients than controls across all comparisons, though not all reached a level of statistical significance once adjusted. Discussion Differences in autoantibody production in patients with 22q11.2DS may contribute to the increased rate of autoimmune disease, loss of tolerance, and neuropsychiatric symptoms seen in this population. Figure 1. (a) Immunoglobulin M (IgM) autoantibodies normalized signal intensity for patients with 22q11.2 deletion syndrome and controls. (b) Immunoglobulin G (IgG) autoantibodies normalized signal intensity for patients with 22q11.2 deletion syndrome and controls.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".