Publications by authors named "E A Cawthorne"
Prolidase deficiency (PD) is a multisystem disorder caused by mutations in the PEPD gene, which encodes a ubiquitously expressed metallopeptidase essential for the hydrolysis of dipeptides containing C-terminal proline or hydroxyproline. PD typically presents in childhood with developmental delay, skin ulcers, recurrent infections, and, in some patients, autoimmune features that can mimic systemic lupus erythematosus. The basis for the autoimmune association is uncertain, but might be due to self-antigen exposure with tissue damage, or indirectly driven by chronic infection and microbial burden.
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- - Peripheral tolerance is crucial for preventing harmful immune reactions caused by autoreactive lymphocytes, but the mechanisms behind it are not fully understood.
- - NDRG1, which is linked to cancer therapy, was found to be the third most upregulated gene in a specific type of B cells that are anergic, suggesting its role in B cell tolerance due to its regulation by B cell receptor activation.
- - Although NDRG1 is associated with certain neurological issues, it does not appear to affect the primary and secondary immune responses, indicating that it is not necessary for maintaining B cell tolerance or for T cell re-stimulation in immune responses.
Article Synopsis
- Developed a high-density mouse immunophenotyping platform that enables extensive genetic screening to study immune variation.
- Identified 140 unique gene knockouts linked to immune response, with many genes not previously associated with immunity.
- Revealed complex interactions between immune traits and physiological characteristics, highlighting how genetics impacts immune function and health.
Physiological effects of cellular hypoxia are sensed by prolyl hydroxylase (PHD) enzymes which regulate HIFs. Genetic interventions on HIF/PHD pathways reveal multiple phenotypes that extend the known biology of hypoxia. Recent studies unexpectedly implicate HIF in aspects of multiple immune and inflammatory pathways.
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- Zinc is crucial for human immunity, but its specific molecular roles have not been extensively studied.
- The research identifies a new genetic disease linked to mutations in the SLC39A7 gene, leading to severe immunodeficiency due to absent B cells and increased infections.
- The study utilizes CRISPR-Cas9 to model ZIP7 deficiency in mice, revealing that low zinc levels in B cells affect their development and signaling, emphasizing zinc's importance in immune cell function.