Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
Sign Up to like & getrecommendations! Published in 2020 at "Immunity"
DOI: 10.1016/j.immuni.2020.07.006
Abstract: Summary Autoinflammatory disease can result from monogenic errors of immunity. We describe a patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of-function mutation (S703I) in JAK1, encoding a kinase essential for signaling downstream… read more here.
Keywords: syndrome unveils; complex autoinflammatory; autoinflammatory; unveils fundamental ... See more keywords
NEMO splice variant causes distinct autoinflammatory syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Nature Reviews Rheumatology"
DOI: 10.1038/s41584-022-00782-8
Abstract: New research has identified an autoinflammatory syndrome caused by mutations in NEMO-encoding IKBKG, leading to NF-κB activation and type I interferon production. read more here.
Keywords: variant causes; splice variant; causes distinct; nemo splice ... See more keywords
Familial cold autoinflammatory syndrome with rheumatoid arthritis
Sign Up to like & getrecommendations! Published in 2021 at "Baylor University Medical Center Proceedings"
DOI: 10.1080/08998280.2021.1913042
Abstract: Abstract Familial cold autoinflammatory syndrome (FCAS) is a cryopyrin-associated periodic syndrome that presents with episodic fever, skin rash, and joint pain after exposure to cold temperatures. Although the diagnosis is often singular, there are several… read more here.
Keywords: cold autoinflammatory; rheumatoid arthritis; autoinflammatory syndrome; familial cold ... See more keywords
Early‐onset recurrent panniculitis as a phenotype of NLRC4‐associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant
Sign Up to like & getrecommendations! Published in 2023 at "Australasian Journal of Dermatology"
DOI: 10.1111/ajd.14005
Abstract: Monoallelic NLRC4 gain‐of‐function variants cause an inflammasomopathy with diverse clinical forms including infantile enterocolitis, recurrent macrophage activation syndrome, cold‐induced urticaria‐like lesions (or familial‐cold autoinflammatory syndrome, FCAS4), and painful subcutaneous nodules. Here, we identified a large… read more here.
Keywords: ser445pro nlrc4; early onset; recurrent panniculitis; panniculitis ... See more keywords
Anesthesia Management of a Patient With Familial Cold Autoinflammatory Syndrome: A Case Report.
Sign Up to like & getrecommendations! Published in 2022 at "Anesthesia progress"
DOI: 10.2344/anpr-69-02-04
Abstract: Familial cold autoinflammatory syndrome (FCAS) is a rare phenotype of cryopyrin-associated periodic syndrome (CAPS) and is characterized by repetitive systemic inflammation triggered by cold stimulation. Recently, we treated a 13-year-old female with FCAS/CAPS scheduled to… read more here.
Keywords: cold autoinflammatory; familial cold; patient; autoinflammatory syndrome ... See more keywords
‘More Than Just Skin in the Game’. DADA2 Autoinflammatory Syndrome and Stroke in the Young
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_716_20
Abstract: A 21-year-old man had a long-standing history of leg ulcers and hyperpigmention over the feet. Over a span of 8 months, he had an acute ischemic stroke followed by a basal ganglia hemorrhage. He was… read more here.
Keywords: skin game; dada2 autoinflammatory; stroke; stroke young ... See more keywords