- Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome.
Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome.
Journal of immunology (Baltimore, Md. : 1950) (2017-02-01)
Ming Sin Cheung, Katerina Theodoropoulou, Jérôme Lugrin, Fabio Martinon, Nathalie Busso, Michaël Hofer
PMID28137891
ABSTRACT
Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects children. Although tendencies were reported for this syndrome, genetic variations influencing risk and disease progression are poorly understood. In this study, we performed next-generation sequencing for 82 unrelated PFAPA patients and identified a frameshift variant in the
MATERIALS
Product Number
Brand
Product Description
Sigma-Aldrich
Sepharose™ 6B, 6% Beaded Agarose, 45-165 μm (wet), fractionation range 10,000-1,000,000 Da (dextrans)
Millipore
ANTI-FLAG® M2 Affinity Gel, purified immunoglobulin, buffered aqueous glycerol solution
Sigma-Aldrich
Anti-VSV-G antibody produced in rabbit, affinity isolated antibody, buffered aqueous solution