Associated Papers
Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.
Graustein AD et al.
American Journal of Respiratory Cell and Molecular Biology, 2021
Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra.
Kim BJ et al.
Rheumatology (oxford, England), 2021
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade.
Rigante D et al.
Clinical Rheumatology, 2018
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
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
Long-term response after 6-year treatment with anakinra and onset of focal bone erosion in neonatal-onset multisystem inflammatory disease (NOMID/CINCA).
Rigante D et al.
Rheumatology International, 2011
The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.
Conforti-Andreoni C et al.
Cellular & Molecular Immunology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
Aksentijevich I et al.
Arthritis and Rheumatism, 2007
PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.
Jéru I et al.
Arthritis and Rheumatism, 2006
Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition.
Tanabe T et al.
The Embo Journal, 2004
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
Neven B et al.
Blood, 2004
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
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
Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.
Cantarini L et al.
International Journal of Immunopathology and Pharmacology, 0