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 …

Tissue deposition of protein fibrils causes a group of rare diseases called systemic
amyloidoses. This Seminar focuses on changes in their epidemiology, the current approach …

Systemic immunoglobulin light chain amyloidosis is a protein misfolding disease caused by
the conversion of immunoglobulin light chains from their soluble functional states into highly …

Background Patisiran, an investigational RNA interference therapeutic agent, specifically
inhibits hepatic synthesis of transthyretin. Methods In this phase 3 trial, we randomly …

Background—Cardiac transthyretin (ATTR) amyloidosis is a progressive and fatal
cardiomyopathy for which several promising therapies are in development. The diagnosis is …

Mutations within the NALP3/cryopyrin/CIAS1 gene are responsible for three
autoinflammatory disorders: Muckle-Wells syndrome, familial cold autoinflammatory …

Background Neonatal-onset multisystem inflammatory disease is characterized by fever,
urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental …

Abstract Adolescent Adult Aged Aged, 80 and over Amyloidosis, Familial-etiology Child
Child, Preschool Colchicine-therapeutic use Epidemiologic Methods Familial Mediterranean …

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 …

Background The cryopyrin-associated periodic syndrome (CAPS) is a rare inherited
inflammatory disease associated with overproduction of interleukin-1. Canakinumab is a …