Associated Papers
Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.
Schulert GS
Pediatric Rheumatology Online Journal, 2025
A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.
Jairaman A et al.
Clinical Genetics, 2024
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.
Berner J et al.
The Journal of Allergy and Clinical Immunology, 2023
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