Heterozygous mutations in RelB can be associated with immune dysregulation and lymphoma
Bibliographic record
Abstract
Background: The nuclear factor kappa-B (NFκB) family of transcription factors is essential for numerous processes, including the development and function of the innate and adaptive immune response, inflammation and cell growth, differentiation, and survival. Recently, patients with homozygous mutations in the gene for the NFκB transcription factor RelB have been described as presenting with features of combined immunodeficiency such as recurrent infection and failure to thrive as well as reduced response to mitogens and an inability to maintain an adequate antibody response to immunizations. Methods: The immune status and genetics of the parents of patients with homozygous RelB mutations were assessed. In vitro mitogen stimulation, flow cytometry, and cytokine ELISA were used to assess immunological status and signal transduction pathways. Results: Four patients were confirmed to have heterozygous RelB mutations. The majority of patients had evidence of immune dysfunction with impaired in vitro responses to PHA and antigens. One patient developed lymphoma. Conclusion: Heterozygous RelB mutations can be associated with immune dysregulation with impaired mitogen and antigen responses and lymphoma. It is likely that the immune defects apparent in RelB deficient humans are due to a wider effect of RelB on the classical NFκB pathway (involving RelA and c-Rel) through cross-regulation of activation and expression in addition to RelB’s function within the alternate pathway. Statement of novelty: We describe for the first time the immune abnormalities in patients with heterozygous RelB mutations.
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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 | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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".