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Presse medicale (Paris, France : 1983), 01/2019
The systemic autoinflammatory disorders (SAIDs) are associated with dysregulation of the innate immune system, affecting pro-inflammatory cytokines and... 
Journal Article
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 08/2016, Volume 68, Issue 8, pp. 2044 - 2049
To investigate the molecular cause of persistent fevers in a patient returning from working overseas, in whom investigations for tropical diseases yielded... 
Sequence Deletion | Humans | Fever - genetics | Adult | Male | Mosaicism | Receptors, Tumor Necrosis Factor, Type I - genetics | Hereditary Autoinflammatory Diseases - genetics | Gangrene | Tumor necrosis factor-TNF | Sperm | Rodents | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Blood, ISSN 0006-4971, 03/2018, Volume 131, Issue 9, pp. 974 - 981
To date, the pathogenic mechanisms underlying Schnitzler syndrome remain obscure, in particular, the interplay between the monoclonal protein and increased... 
RECEPTOR ANTAGONIST ANAKINRA | EFFICACY | SAFETY | CANAKINUMAB | PERIODIC SYNDROMES | INFLAMMASOME | DISEASE | FOLLOW-UP | HEMATOLOGY | RILONACEPT | MOSAICISM | Index Medicus | Abridged Index Medicus | Immunobiology and Immunotherapy
Journal Article
CIRCULATION-CARDIOVASCULAR IMAGING, ISSN 1941-9651, 08/2016, Volume 9, Issue 8
Background-Calcific aortic stenosis (cAS) affects 3% of individuals aged >75 years, leading to heart failure and death unless the valve is replaced. Wild-type... 
POPULATION | CARDIAC & CARDIOVASCULAR SYSTEMS | aortic stenosis, calcific | ACID SCINTIGRAPHY | HEART-FAILURE | aortic valve stenosis | PRESERVED EJECTION FRACTION | PATHOLOGY | SUBAORTIC SEPTAL MYECTOMY | Congo red | HYPERTROPHIC CARDIOMYOPATHY | IMPLANTATION | ENHANCEMENT | biopsy | mass spectrometry | SENILE SYSTEMIC AMYLOIDOSIS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Immunohistochemistry | Prealbumin - genetics | Predictive Value of Tests | Cardiomyopathies - diagnostic imaging | Myocardium - chemistry | Humans | Tomography, Emission-Computed, Single-Photon | Male | Aortic Valve - surgery | Amyloid - analysis | Aortic Valve Stenosis - diagnostic imaging | Aortic Valve Stenosis - mortality | Cardiomyopathies - genetics | Cardiomyopathies - mortality | Mass Spectrometry | Aged, 80 and over | Female | Aortic Valve Stenosis - surgery | Severity of Illness Index | Genetic Predisposition to Disease | Echocardiography | Aortic Valve - diagnostic imaging | Amyloid Neuropathies, Familial - genetics | Risk Factors | Amyloid Neuropathies, Familial - diagnostic imaging | Kaplan-Meier Estimate | Proportional Hazards Models | Heart Valve Prosthesis Implantation - mortality | Myocardium - pathology | Treatment Outcome | Amyloid Neuropathies, Familial - epidemiology | Magnetic Resonance Imaging | Cardiomyopathies - epidemiology | Phenotype | Biopsy | Heart Valve Prosthesis Implantation - adverse effects | London | Aged | Amyloid Neuropathies, Familial - mortality | Mutation | Index Medicus
Journal Article
Arthritis and Rheumatology, ISSN 2326-5191, 2014, Volume 66, Issue 1, pp. 197 - 202
Objective. To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole-exome sequencing in a... 
MUCKLE-WELLS-SYNDROME | GENETIC-VARIANTS | MUTATIONS | RHEUMATOLOGY | GALAXY | Brief Report
Journal Article
Rheumatology (United Kingdom), ISSN 1462-0324, 12/2017, Volume 56, Issue 12, pp. 2102 - 2108
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 01/2014, Volume 66, Issue 1, pp. 197 - 202
To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole-exome sequencing in a child who had... 
Exome | Carrier Proteins - genetics | Cryopyrin-Associated Periodic Syndromes - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Male | Mosaicism | Child | Sequence Analysis, DNA | Mutation, Missense - genetics | Genes | Mutation | Index Medicus | Abridged Index Medicus
Journal Article
Frontiers in immunology, ISSN 1664-3224, 2017, Volume 8, p. 1410
Cryopyrin-associated periodic syndrome (CAPS) is caused by mutations. Recently, somatic mosaicism has been reported in some CAPS patients who were previously... 
Journal Article
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