Publications by authors named "Kat Uss"
Article Synopsis
- Mutations in genes related to proteasome function cause a chronic inflammatory condition known as CANDLE or PRAAS, characterized by elevated temperatures and immune system issues.
- Five unrelated patients were studied, revealing novel genetic variants that contribute to the disease, with four carrying mutations in well-known CANDLE/PRAAS genes and one having mutations in less recognized genes.
- The findings enhance understanding of genetic factors behind PRAAS and aid in better diagnosis and genetic counseling for affected individuals.
Objective: To describe a 41-year-old woman with a history of neonatal onset multisystem inflammatory disease, on treatment with daily subcutaneous injections of 600 mg of recombinant interleukin-1 receptor antagonist (IL-1Ra) protein, anakinra, since the age of 28, who presented with golf-ball size nodules at the anakinra injection sites, early satiety, new onset nephrotic syndrome in the context of normal markers of systemic inflammation.
Methods: Clinical history and histologic evaluation of biopsies of skin, gastric mucosa, and kidney with Congo-red staining and proteomic evaluation of microdissected Congo red-positive amyloid deposits by liquid chromatography-tandem mass spectrometry.
Results: The skin, stomach, and kidney biopsies all showed the presence of Congo red-positive amyloid deposits.