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Guidelines For The Genetic Diagnosis Of Hereditary Recurrent Fevers
(2012)
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the ...
An Overlap Syndrome Involving Autoimmune Hepatitis And Systemic Lupus Erythematosus In Childhood
(Baishideng Publishing Group Inc, 2007)
We report a 12 years old female patient with an overlap syndrome involving autoimmune hepatitis (AIH) and systemic lupus erythematosus (SLE). The patient presented with jaundice, hepatosplenomegaly, malaise, polyarthralgia, ...
Hla-Drb1*11 And Variants Of The Mhc Class Ii Locus Are Strong Risk Factors For Systemic Juvenile Idiopathic Arthritis
(Natl Acad Sciences, 2015)
Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is poorly understood. To determine whether genetic variation within ...
Coq6 Mutations In Human Patients Produce Nephrotic Syndrome With Sensorineural Deafness
(Amer Soc Clinical Investigation Inc, 2011)
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and ...