Publications by authors named "Jeronima Canellas"
Background: Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms of the body distribution of postzygotic mutations. Mosaicism has been reported occasionally in patients with primary immunodeficiency diseases (PIDs) since the early 1990s, but its real involvement has not been systematically addressed.
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- - Patients with Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and CINCA syndrome share a genetic basis linked to gain-of-function mutations in the NLRP3 gene, part of the cryopyrin-associated periodic syndromes (CAPS).
- - The study revealed that about 12.5% of MWS patients exhibited somatic NLRP3 mosaicism, with six different, disease-causing variants identified, suggesting a common genetic mechanism across CAPS conditions.
- - Treatment with anti-interleukin-1 drugs resulted in lasting positive outcomes for all patients, highlighting the importance of detecting somatic mosaicism for proper diagnosis and access to targeted therapies.