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Open Access 01-11-2013 | Meeting abstract

OR7-002 – Pyrin 577 mutations in dominant autoinflammation

Authors: M Stoffels, A Szperl, A Simon, MG Netea, TS Plantinga, M van Deuren, S Kamphuis, H Lachmann, E Cuppen, WP Kloosterman, J Frenkel, CC van Diemen, C Wijmenga, M van Gijn, JW van der Meer

Published in: Pediatric Rheumatology | Special Issue 1/2013

Excerpt

Autoinflammatory disorders are disorders of the innate immune system. Standard genetic testing provided no correct diagnosis in a female patient from a non-consanguineous family of British descent with a colchicine-responsive autosomal dominant periodic fever syndrome. …

Title: OR7-002 – Pyrin 577 mutations in dominant autoinflammation
Authors: M Stoffels
A Szperl
A Simon
MG Netea
TS Plantinga
M van Deuren
S Kamphuis
H Lachmann
E Cuppen
WP Kloosterman
J Frenkel
CC van Diemen
C Wijmenga
M van Gijn
JW van der Meer
Publication date: 01-11-2013
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/1546-0096-11-S1-A103

At a glance: The STEP trials

Springer Medicine

OR7-002 – Pyrin 577 mutations in dominant autoinflammation

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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