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Article
Open AccessWhole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical se...
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Article
Open AccessProgressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although ...
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Familial Mediterranean Fever
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent, sporadic, self-limited episodes of fever accompanied by peritonitis, pleuritis, arthritis, and/or erysipe...
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Article
Pentraxin 3 is a marker of early joint inflammation in patients with juvenile idiopathic arthritis
Pentraxin 3 (PTX3) is an acute phase protein produced in different body tissues. The aims of this study were to characterize PTX3 secretion in synovial fluid (SF) of juvenile idiopathic arthritis (JIA) patient...
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Article
T-Cell Compartment in Synovial Fluid of Pediatric Patients with JIA Correlates with Disease Phenotype
Juvenile idiopathic arthritis (JIA) is an autoimmune disease where T cells are key players. It can be classified into two main clinical diseases: polyarticular and pauciarticular, based on the number of joints...
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Article
Intracardiac thrombus and pulmonary aneurysms in an adolescent with Behçet disease
Behçet disease (BD) is an inflammatory disorder of unknown origin. We present here an unusual case of juvenile Behçet with hemoptysis due to large pulmonary artery aneurysms (PAA), large intra-cardiac thrombus...
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Article
Genotype-Phenotype Correction in 75 Pediatric Familial Mediterranean Fever Patients
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Syndrome of Periodic Fever, Pharyngitis and Aphthous Stomatitis • 1986
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INTRA-ARTICULAR CORTICOSTEROID INJECTION IN THE MANAGEMENT OF CHILDREN WITH CHRONIC ARTHRITIS • 1846
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Article
IgA RECEPTOR MEDIATED ACTIVATION OF HUMAN MONOCYTES
Immune complexes of the IgA isotype are clearly implicated in the immunopatnogenesis of several disorders in the pediatric population particularly IgA nephropathy and Henoch-Schonlein disease. Therefore we hav...
