Unknown,Transcriptomics,Genomics,Proteomics

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Whole blood gene expression data from PFAPA syndrome


ABSTRACT: PFAPA, the syndrome of periodic fever associated with aphthous stomatitis, pharyngitis and/or cervical adenitis, is the most common periodic fever disease in children. Cases are mostly sporadic; the etiopathogenesis is unknown. In order to shed more insights into pathogenesis, we performed microarray expression analysis on samples from patients with PFAPA during and between flares, healthy controls and patients with hereditary autoinflammatory diseases during flares. RNA was extracted from whole peripheral blood from six patients with PFAPA syndrome during flares and asymptomatic intervals, six healthy controls and six patients with hereditary autoinflammatory diseases (2 familial Mediterranean fever (FMF), 1 TNF-receptor-asociated periodic fever syndrome (TRAPS) and 3 cryopyrin-associated periodic syndromes (CAPS)).

ORGANISM(S): Homo sapiens

SUBMITTER: Silvia Stojanov 

PROVIDER: E-GEOD-17732 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade.

Stojanov Silvia S   Lapidus Sivia S   Chitkara Puja P   Feder Henry H   Salazar Juan C JC   Fleisher Thomas A TA   Brown Margaret R MR   Edwards Kathryn M KM   Ward Michael M MM   Colbert Robert A RA   Sun Hong-Wei HW   Wood Geryl M GM   Barham Beverly K BK   Jones Anne A   Aksentijevich Ivona I   Goldbach-Mansky Raphaela R   Athreya Balu B   Barron Karyl S KS   Kastner Daniel L DL  

Proceedings of the National Academy of Sciences of the United States of America 20110408 17


The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever disease in children. However, the pathogenesis is unknown. Using a systems biology approach we analyzed blood samples from PFAPA patients whose genetic testing excluded hereditary periodic fevers (HPFs), and from healthy children and pediatric HPF patients. Gene expression profiling could clearly distinguish PFAPA flares from asymptomatic intervals, HPF flares, and he  ...[more]

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