Autoinflammatory Syndromes

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment...
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

Full Papers; Authors: Antonio Vitale, Ida Orlando, Giuseppe Lopalco, Giacomo Emmi, Marco Cattalini, Bruno Frediani, Mauro Galeazzi, Florenzo Iannone, Donato Rigante, Luca Cantarini
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)

Objectives Inflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like receptor (NLR) containing a PYRIN domain 1 (NLRP1), NLRP3 and NLRC4 plays a key role in this innate immune system by directl...
ardbeta.bmj.com

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