• Publications
  • Influence
NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.
Mutations within the NALP3/cryopyrin/CIAS1 gene are responsible for three autoinflammatory disorders: Muckle-Wells syndrome, familial cold autoinflammatory syndrome, and CINCA. The NALP3 protein isExpand
  • 1,471
  • 88
Natural history and outcome in systemic AA amyloidosis.
BACKGROUND Deposition of amyloid fibrils derived from circulating acute-phase reactant serum amyloid A protein (SAA) causes systemic AA amyloidosis, a serious complication of many chronicExpand
  • 746
  • 46
  • PDF
Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): A consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis
We undertook this study to develop uniformly accepted criteria for the definition of organ involvement and response for patients on treatment protocols for immunoglobulin light‐chain amyloidosisExpand
  • 989
  • 34
  • PDF
Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis
Background— Cardiac transthyretin (ATTR) amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missedExpand
  • 609
  • 34
  • PDF
Evaluation and management of the cardiac amyloidosis.
Cardiac amyloidosis describes clinically significant involvement of the heart by amyloid deposition, which may or may not be associated with involvement of other organs. The purpose of this review isExpand
  • 277
  • 22
Instability, unfolding and aggregation of human lysozyme variants underlying amyloid fibrillogenesis
Tissue deposition of soluble proteins as amyloid fibrils underlies a range of fatal diseases. The two naturally occurring human lysozyme variants are both amyloidogenic, and are shown here to beExpand
  • 932
  • 21
  • PDF
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
BACKGROUND Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A alpha-chain, lysozyme, or apolipoprotein A-I, is thought to be extremelyExpand
  • 568
  • 21
  • PDF
Safety and efficacy of RNAi therapy for transthyretin amyloidosis.
BACKGROUND Transthyretin amyloidosis is caused by the deposition of hepatocyte-derived transthyretin amyloid in peripheral nerves and the heart. A therapeutic approach mediated by RNA interferenceExpand
  • 653
  • 20
Use of canakinumab in the cryopyrin-associated periodic syndrome.
BACKGROUND The cryopyrin-associated periodic syndrome (CAPS) is a rare inherited inflammatory disease associated with overproduction of interleukin-1. Canakinumab is a human anti-interleukin-1betaExpand
  • 518
  • 20
EULAR recommendations for the management of familial Mediterranean fever
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, but many rheumatologists are not well acquainted with its management. The objective of this report is toExpand
  • 183
  • 20
  • PDF