A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3...
A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever
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Publisher
England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd and European League Against Rheumatism
Subjects
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Scope and Contents
Contents
ObjectivePyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation disrupts a binding motif of the regulatory 14-3-3 proteins within pyrin. Here, we investigate a family with clinical features consistent with PAAND in whom the novel p.E244K MEF...
Alternative Titles
Full title
A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5687562
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5687562
Other Identifiers
ISSN
0003-4967
E-ISSN
1468-2060
DOI
10.1136/annrheumdis-2017-211473
