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Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the <i>ADAR1</i> c.<i>3019G</i>>A Variant. [PDF]

open access: yesClin Case Rep
Turan K   +11 more
europepmc   +1 more source

Treatment of hereditary autoinflammatory diseases

Current Opinion in Rheumatology, 2014
The purpose of this review is to summarize recent advances in the treatment of the hereditary autoinflammatory diseases, focusing on Familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndromes (CAPS) and mevalonate kinase deficiency (MKD). We discuss recently published
Nienke M, Ter Haar, Joost, Frenkel
semanticscholar   +4 more sources

Molecular and Genetic Characteristics of Hereditary Autoinflammatory Diseases

Current Drug Target -Inflammation & Allergy, 2005
Autoinflammatory diseases are defined as recurrent "unprovoked" inflammatory events which do not produce high-titer autoantibodies or antigen-specific T cells. There are currently eight hereditary forms of these diseases: Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), tumor necrosis factor receptor ...
Mehmet, Tunca, Huri, Ozdogan
openaire   +3 more sources

Hereditary systemic autoinflammatory diseases

Reumatología Clínica (English Edition), 2011
Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated ...
Juan I. Aróstegui
semanticscholar   +4 more sources

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