Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Rheumatology"
DOI: 10.1007/s10067-022-06130-1
Abstract: There have been hundreds of reports on mutations in the NLRP3 gene related to NLRP3-associated autoinflammatory disease, but few of these mutations have occurred as both germline and somatic mosaic mutations. In this case-based review,… read more here.
Keywords: nlrp3 associated; somatic mosaic; associated autoinflammatory; amyloidosis ... See more keywords
A Rare Case of an NLRP12-Associated Autoinflammatory Disease.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104168
Abstract: Pathogenic variants in nucleotide-binding oligomerization-like receptor protein 12 (NLRP12) have been recently suggested as possible causes of autoinflammatory syndromes and should be considered for the differential diagnosis in the patients presenting with symptoms of autoinflammatory… read more here.
Keywords: associated autoinflammatory; autoinflammatory disease; rare case; case nlrp12 ... See more keywords