Hereditary immunologic disorders caused by pyrin and cryopyrin.
A new family of hereditary immunologic disorders known as the autoinflammatory diseases involves dysregulation of the innate immune system. Elucidation of the genetic basis of these disorders has resulted in improved understanding of the disease pathophysiology of systemic and tissue inflammation, and has also revealed novel nonpathologic innate immune mechanisms. These advances have also resulted in direct improvement in diagnosis and therapy for autoinflammatory disorders such as the cryopyrinopathies and familial Mediterranean fever and have implications for more common inflammatory diseases.
Hoffman
Hal M
HM
Division of Rheumatology, Allergy, and Immunology, University of California at San Diego Medical School, 9500 Gilman Drive, La Jolla, CA 92093-0635, USA. hahoffman@ucsd.edu
D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002352:Carrier Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D000071198:Pyrin
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D000071198:Pyrin
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