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Autoinflammatory Syndrome

A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either… 
National Institutes of Health

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Related topics

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Autoimmune Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Highly Cited
2013
Highly Cited
2013
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production.
Highly Cited
2012
Highly Cited
2012
Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome.
Highly Cited
2011
Highly Cited
2011
Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP12 Mutation
Objective NLRP12 mutations have been described in patients affected with peculiar autoinflammatory symptoms. This study was… 
Highly Cited
2010
Highly Cited
2010
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
Review
2008
Review
2008
Regulation by reversible S-glutathionylation: molecular targets implicated in inflammatory diseases.
Review
2008
Review
2008
Autoinflammatory diseases: clinical and genetic advances.
We conducted a literature review to investigate the recent advances in genetics, molecular biology, clinical manifestations, and… 
Highly Cited
2004
Highly Cited
2004
Simvastatin Treatment for Inflammatory Attacks of the Hyperimmunoglobulinemia D and Periodic Fever Syndrome
Review
2003
Review
2003
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
The authors review the genes, and their respective proteins, responsible for eight autoinflammatory conditions. Familial… 
Highly Cited
2002
Highly Cited
2002
Mutation of a New Gene Encoding a Putative Pyrin-Like Protein Causes Familial Cold Autoinflammatory Syndrome and Muckle-Wells Syndrome
Purpose of the Study. Some patients with severe congenital neutropenia harbor mutations in the carboxyl terminus of the… 
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