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TranscriptomicsAn activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Inflammasomes are intracellular innate immune sensors that respond to pathogen and damage-associated signals with the proteolytic cleavage of caspase-1, resulting in IL-1_ and IL-18 secretion and macrophage pyroptosis. The discovery that heterozygous gain-of-function mutations in NLRP3 lead to overs...
ORGANISM(S): Homo sapiens 
2014-09-08 | E-GEOD-57253 | biostudies-arrayexpress
TranscriptomicsMicroarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts.
To analyse gene expression patterns and to define a specific gene expression signature in patients with the severe end of the spectrum of cryopyrin-associated periodic syndromes (CAPS). The molecular consequences of interleukin 1 inhibition were examined by comparing gene expression patterns in 16 C...
ORGANISM(S): Homo sapiens 
2013-01-16 | E-GEOD-43553 | biostudies-arrayexpress
TranscriptomicsRare and common variants in CARD14, an epidermal regulator of NF-kappaB, in psoriasis
Psoriasis is a common inflammatory disorder of the skin and other organs. We have determined that mutations in CARD14, encoding an NF-kB activator within skin epidermis, account for PSORS2. Here we describe fifteen additional rare, missense variants in CARD14, their distribution in seven psoriasis c...
ORGANISM(S): Homo sapiens 
2012-05-08 | E-GEOD-36381 | biostudies-arrayexpress
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