Associated Papers
Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.
Di Donato G et al.
International Journal of Molecular Sciences, 2021
The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.
Vitale A et al.
Internal and Emergency Medicine, 2017
Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.
Naselli A et al.
The Journal of Rheumatology, 2016
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.
Touitou I et al.
European Journal of Human Genetics : Ejhg, 2009
The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies.
Glaser RL et al.
Current Allergy and Asthma Reports, 2008
Autoinflammatory syndromes with a dermatological perspective.
Kanazawa N et al.
The Journal of Dermatology, 2007
Familial autoinflammatory diseases: genetics, pathogenesis and treatment.
Stojanov S et al.
Current Opinion in Rheumatology, 2005
Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment.
Rösen-Wolff A et al.
European Journal of Haematology, 2003
Genetic clues to understanding periodic fevers, and possible therapies.
McDermott MF
Trends in Molecular Medicine, 2002
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Aksentijevich I et al.
Arthritis and Rheumatism, 2002
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
Feldmann J et al.
American Journal of Human Genetics, 2002
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
Dodé C et al.
American Journal of Human Genetics, 2002