Publications by authors named "I Aksentijevich"

Somatic mutations (also known as acquired mutations) are emerging as common, age-related processes that occur in all cells throughout the body. Somatic mutations are canonically linked to malignant processes but over the past decade have been increasingly causally connected to benign diseases including rheumatic conditions. Here we outline the contribution of somatic mutations to complex and monogenic immunological diseases with a detailed review of unique aspects associated with such causes.

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  • Yao syndrome (YAOS) is an autoinflammatory disease linked to specific genetic variants, with this study analyzing a large group of adult patients diagnosed with related conditions.
  • Out of 194 patients studied, 152 were diagnosed with YAOS, while the remainder had mixed autoinflammatory diseases, often showing multiple genetic variants.
  • The findings highlight the diverse presentations of YAOS and aim to increase awareness and understanding of this often underrecognized disease among healthcare professionals.
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  • Inactivation of the A20 gene is linked to a specific form of lymphoma and is studied in patients with haploinsufficiency of A20 (HA20), revealing immune system impacts.
  • In a study of 34 HA20 patients, researchers found that the loss of one A20 gene copy leads to an increase in self-reactive lymphocyte receptors, often seen in lymphomas.
  • The immune changes are driven by a feedback loop involving tumor necrosis factor (TNF), A20, and NF-κB, and can potentially be reversed by anti-TNF treatment, but may still lead to lymphoma development.
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  • Significant advancements in paediatric rheumatology over the last 25 years include the introduction of autoinflammation concepts, particularly through familial Mediterranean fever studies.
  • Genetic research has revealed complexities in how inflammation is inherited and contributed to a deeper understanding of paediatric rheumatic conditions, aided by data from rare genetic disorders.
  • The emergence of new 'omics' technologies and targeted biologic therapies has improved disease management and monitoring, while the COVID-19 pandemic has prompted research into viral infections and inflammation in children.
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