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Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 11/2015, Volume 74, Issue 11, pp. 2043 - 2049
ObjectiveTo evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry,... 
ARTICULAR SYNDROME | NLRP3 MUTATION | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | RHEUMATOLOGY | CIAS1 MUTATIONS | AA AMYLOIDOSIS | MULTISYSTEM INFLAMMATORY DISEASE | Arthralgia - etiology | Uveitis - etiology | Conjunctivitis - genetics | Headache - etiology | Exanthema - genetics | Myalgia - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Child, Preschool | Infant | Male | Papilledema - genetics | Arthritis - genetics | Meningitis - etiology | Exanthema - etiology | Young Adult | Arthritis - etiology | Germ-Line Mutation | Adult | Female | Registries | Retrospective Studies | Arthralgia - genetics | Child | Cryopyrin-Associated Periodic Syndromes - complications | Meningitis - genetics | Severity of Illness Index | Cryopyrin-Associated Periodic Syndromes - genetics | Europe | Genotype | Myalgia - etiology | Hearing Loss, Sensorineural - genetics | Headache - genetics | Cryopyrin-Associated Periodic Syndromes - physiopathology | Carrier Proteins - genetics | Phenotype | Hearing Loss, Sensorineural - etiology | Adolescent | Alleles | Heterozygote | Mutation | Uveitis - genetics | Conjunctivitis - etiology | Cohort Studies | Papilledema - etiology | Complications and side effects | Nervous system diseases | Care and treatment | Research | Cryopyrin-associated periodic syndromes | Studies | Genotype & phenotype | Statistical analysis | Disease | Cold | Meningitis | Family medical history | Hearing impairment | Fever | Chronic illnesses
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 11/2015, Volume 67, Issue 11, pp. 3027 - 3036
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 12/2014, Volume 73, Issue 12, pp. 2168 - 2173
Journal Article
Otolaryngology–Head and Neck Surgery, ISSN 0194-5998, 8/2011, Volume 145, Issue 2, pp. 295 - 302
Objective. Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent... 
Chronic infantile neurological cutaneous and articular syndrome | Muckle-Wells syndrome | Cryopyrin-associated periodic syndromes | Familial cold autoinflammatory syndrome | Neonatal-onset multisystem inflammatory disease | SURGERY | familial cold auto-inflammatory syndrome | chronic infantile neurological cutaneous and articular syndrome | cryopyrin-associated periodic syndromes | MUCKLE-WELLS-SYNDROME | ANAKINRA | CIAS1 MUTATIONS | FEATURES | PATHOGENESIS | DISEASES | INHIBITION | INFLAMMATION | OTORHINOLARYNGOLOGY | COLD AUTOINFLAMMATORY SYNDROME | SPECTRUM | neonatalonset multisystem inflammatory disease | Hearing Loss, Mixed Conductive-Sensorineural - physiopathology | Prognosis | Prospective Studies | Follow-Up Studies | Hearing Loss, Mixed Conductive-Sensorineural - etiology | Humans | Hyperplasia | Middle Aged | Child, Preschool | Infant | Male | Interleukin-1 - biosynthesis | Respiratory Mucosa - pathology | Young Adult | Hearing Loss, Sensorineural - diagnosis | Cochlea - metabolism | Adult | Female | Paranasal Sinus Diseases - pathology | Maxillary Sinus - pathology | Hearing Loss, Mixed Conductive-Sensorineural - diagnosis | Child | Cryopyrin-Associated Periodic Syndromes - complications | Cryopyrin-Associated Periodic Syndromes - physiopathology | Magnetic Resonance Imaging | Cryopyrin-Associated Periodic Syndromes - diagnosis | Hearing Loss, Sensorineural - etiology | Adolescent | Audiometry, Pure-Tone | Aged | Bone Conduction | Hearing - physiology | Paranasal Sinus Diseases - etiology | Hearing Loss, Sensorineural - physiopathology | neonatal-onset multisystem inflammatory disease | familial cold autoinflammatory syndrome
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 1896 - 17
Journal Article
Journal Article
FASEB Journal, ISSN 0892-6638, 04/2015, Volume 29, Issue 4, pp. 1269 - 1279
Activating-mutations in NOD-like receptor (NLR) family, pyrin domain-containing 3 (NLRP3) cause neonatal-onset multisystem inflammatory disease. However, the... 
Osteoclasts | Cryopyrinopathies | PARP1 | IL-1β | NOMID | TARGET | CELLS | ACTIVATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | IL-1 beta | cryopyrinopathies | CELL BIOLOGY | ASC | DESTRUCTION | osteoclasts | BIOLOGY | ADP-RIBOSYLATION | POLY(ADP-RIBOSE) POLYMERASE-1 | INFLAMMASOMES | OSTEOCLAST DIFFERENTIATION | Inflammation - pathology | Inflammasomes - metabolism | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Bone Diseases, Metabolic - pathology | Osteolysis - etiology | Cryopyrin-Associated Periodic Syndromes - etiology | Osteoclasts - immunology | Mice, Mutant Strains | Myeloid Cells - immunology | Proteolysis | Cell Differentiation | Cryopyrin-Associated Periodic Syndromes - pathology | Mutant Proteins - immunology | Carrier Proteins - immunology | Osteolysis - pathology | Disease Models, Animal | Osteoclasts - pathology | Mice, Inbred C57BL | Bone Diseases, Metabolic - etiology | Mutant Proteins - genetics | Osteolysis - physiopathology | Mice, Transgenic | Mutant Proteins - metabolism | Inflammation - etiology | Osteoclasts - metabolism | Cryopyrin-Associated Periodic Syndromes - physiopathology | Carrier Proteins - genetics | Cell Lineage | Poly(ADP-ribose) Polymerases - metabolism | Animals | Carrier Proteins - metabolism | Inflammasomes - immunology | Myeloid Cells - metabolism | Mice | Myeloid Cells - pathology | Poly (ADP-Ribose) Polymerase-1 | Bone Diseases, Metabolic - physiopathology | Inflammation - physiopathology | Research Communication
Journal Article
Israel Medical Association Journal, ISSN 1565-1088, 10/2014, Volume 16, Issue 10, pp. 659 - 661
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 01/2015, Volume 67, Issue 1, pp. 302 - 314
Journal Article
Seminars in Arthritis and Rheumatism, ISSN 0049-0172, 2016, Volume 46, Issue 3, pp. 367 - 371