The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry
onlinelibrary.wiley.com
Mevalonate kinase deficiency (MKD) is an autoinflammatory syndrome characterized by periodic fever and generalized inflammation, and includes the better known Hyperimmunoglobulinemia D Syndrome (HIDS).
Demographic, clinical and therapeutic findings in a monocentric cohort of adult patients with suspected PFAPA syndrome
clinexprheumatol.org
Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation
Pyoderma gangrenosum is a rare inflammatory neutrophilic dermatosis manifesting as painful ulcers…
onlinelibrary.wiley.com
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)
ardbeta.bmj.com