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Arthritis & rheumatology (Hoboken, N.J.), ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 08/2017, Volume 65, Issue 2, pp. 200 - 206
Journal Article
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, pp. 81 - 7
Background: Patients with intermediate uveitis (IU) represent a heterogenous group characterized by a wide spectrum of etiologies and regional differences... 
Intermediate uveitis | Systemic associations | Treatment | Complications | Etiology | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-FEATURES | PARS PLANITIS | MULTIPLE-SCLEROSIS | SYSTEMIC-DISEASES | GENETICS & HEREDITY | ASSOCIATION | EPIDEMIOLOGY | Glaucoma - etiology | Humans | Immunosuppressive Agents - therapeutic use | Middle Aged | Child, Preschool | Male | Uveitis, Intermediate - physiopathology | Young Adult | Macular Edema - etiology | Multiple Sclerosis - physiopathology | Sarcoidosis - physiopathology | Aged, 80 and over | Adult | Female | Retrospective Studies | Steroids - therapeutic use | Child | Visual Acuity - physiology | Glaucoma - physiopathology | Cataract - etiology | Treatment Outcome | Uveitis, Intermediate - complications | Uveitis, Intermediate - etiology | Multiple Sclerosis - complications | Sarcoidosis - complications | Macular Edema - physiopathology | Adolescent | Aged | Cataract - physiopathology | Uveitis, Intermediate - drug therapy | Multiple sclerosis | Angiography | Snow | Tick-borne encephalitis | Clinical trials | Leprosy | Retina | Arthritis | Epidemiology | Hemorrhage | Acuity | Eye | Interleukin 2 | Peptidyl-dipeptidase A | Syphilis | Standard deviation | Alveoli | Age | Arachnids | Hypothesis testing | Encephalitis | Immunization | Sarcoidosis | Bronchus | Inflammation | Meningoencephalitis | Radiography | Immunosuppression | Side effects | Infectious diseases | Tuberculosis | Angiotensin | Conditioned stimulus | Azathioprine | Age composition
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 | Research Support, Non-U.S. Gov't | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | CIAS1 MUTATIONS | AA AMYLOIDOSIS | Journal Article | MULTISYSTEM INFLAMMATORY DISEASE | RHEUMATOLOGY | 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
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2017, Volume 76, Issue Suppl 2, p. 722
BackgroundThere is increasing interest in understanding the efficacy of adalimumab across different etiologies of uveitis... 
Sarcoidosis | Etiology | Uveitis | Clinical trials | Stockholders | Monoclonal antibodies | Data processing | Prednisone | Patients
Journal Article