OR11-006 - A mutation in NLRP1A causes autoinflammation
نویسندگان
چکیده
منابع مشابه
OR11-006 - A mutation in NLRP1A causes autoinflammation
Introduction The NLRs (Nucleotide-binding domain and Leucine-rich repeat containing Receptors) are a family of intracellular innate immune receptors involved in host defense. Upon activation, NLRs form large protein complexes called “inflammasomes” that bind and activate Caspase-1, resulting in proteolytic activation of the pro-inflammatory cytokines pro-IL-1b and pro-IL-18 and also induce a Ca...
متن کاملA mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.
Proteasomes are multisubunit proteases that play a critical role in maintaining cellular function through the selective degradation of ubiquitinated proteins. When 3 additional β subunits, expression of which is induced by IFN-γ, are substituted for their constitutively expressed counterparts, the structure is converted to an immunoproteasome. However, the underlying roles of immunoproteasomes ...
متن کاملAn inherited mutation in NLRC4 causes autoinflammation in human and mice
Autoinflammatory syndromes cause sterile inflammation in the absence of any signs of autoimmune responses. Familial cold autoinflammatory syndrome (FCAS) is characterized by intermittent episodes of rash, arthralgia, and fever after exposure to cold stimuli. We have identified a missense mutation in the NLRC4 gene in patients with FCAS. NLRC4 has been known as a crucial sensor for several Gram-...
متن کاملP02-006 - A novel PSTPIP1 mutation in PAPA syndrome
Introduction Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is an autosomal dominant autoinflammatory disease caused by mutations in the proline-serinethreonine phosphatase-interacting protein 1, PSTPIP1. The produced protein is a cytoskeleton-associated adaptor protein that modulates T-cell activation, cytoskeletal organization and IL-1b release. The only two mutations desc...
متن کاملP01-006 – MEFV mutation detection in Arabic patients
Introduction Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells. Familial Mediterranean fever (FMF) is the archetypal hereditary periodic fever syndrome and autoinflammatory disorder. It is characterized by recurrent selflimiting episodes of fever and painful polyserositis....
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a195