ONTOLOGY SOURCE REFERENCE Term Source Name "HP" "CHEBI" "BTO" "EFO" "NCBITAXON" "OMIM" "PR" "SNOMEDCT" "DOID" Term Source File "http://data.bioontology.org/ontologies/HP" "http://data.bioontology.org/ontologies/CHEBI" "http://data.bioontology.org/ontologies/BTO" "http://data.bioontology.org/ontologies/EFO" "http://data.bioontology.org/ontologies/NCBITAXON" "http://data.bioontology.org/ontologies/OMIM" "http://data.bioontology.org/ontologies/PR" "http://data.bioontology.org/ontologies/SNOMEDCT" "http://data.bioontology.org/ontologies/DOID" Term Source Version "408" "78" "20" "111" "2" "4" "56" "7" "399" Term Source Description "Human Phenotype Ontology" "Chemical Entities of Biological Interest Ontology" "BRENDA Tissue and Enzyme Source Ontology" "Experimental Factor Ontology" "National Center for Biotechnology Information (NCBI) Organismal Classification" "Online Mendelian Inheritance in Man" "Protein Ontology" "Systematized Nomenclature of Medicine - Clinical Terms" "Human Disease Ontology" INVESTIGATION Investigation Identifier "" Investigation Title "" Investigation Description "" Investigation Submission Date "" Investigation Public Release Date "" Comment [Created with configuration] "" Comment [Last Opened With Configuration] "" Comment[Created With Configuration] "" Comment[Last Opened With Configuration] "" INVESTIGATION PUBLICATIONS Investigation PubMed ID "" Investigation Publication DOI "" Investigation Publication Author List "" Investigation Publication Title "" Investigation Publication Status "" Investigation Publication Status Term Accession Number "" Investigation Publication Status Term Source REF "" INVESTIGATION CONTACTS Investigation Person Last Name "" Investigation Person First Name "" Investigation Person Mid Initials "" Investigation Person Email "" Investigation Person Phone "" Investigation Person Fax "" Investigation Person Address "" Investigation Person Affiliation "" Investigation Person Roles "" Investigation Person Roles Term Accession Number "" Investigation Person Roles Term Source REF "" STUDY Study Identifier "E-GEOD-8650" Study Title "Transcription profiling of PBMCs from patients with several autoimmune inflammatory diseases or similar disorders and healthy controls. Some patients are on Celebrex or steroids. [original title: Transcription profiling of human blood leukocytes to diagnose systemic onset juvenile idiopathic arthritis and follow IL-1 blockade]" Study Description "123 patients, duplicate samples. [original description: Systemic onset Juvenile Idiopathic Arthritis (SoJIA) represents up to 20% of Juvenile Idiopathic Arthritis (JIA). We have previously reported that this disease is Interleukin 1 (IL1)-mediated, and that IL-1 blockade results in clinical remission in the majority of patients. The diagnosis of SoJIA, however, still relies on clinical findings as no specific diagnostic tests are available, which leads to delays in the initiation of specific therapy. To identify specific diagnostic markers, we analyzed gene expression profiles in 19 pediatric patients with SoJIA during the systemic phase of the disease (fever and/or arthritis), 25 SoJIA patients with no systemic symptoms (arthritis only or no symptoms), 39 healthy controls, 94 pediatric patients with acute viral and bacterial infections (available under GSE6269), 38 pediatric patients with Systemic Lupus Erythematosus (SLE), and 6 patients with a second IL-1 mediated disease known as PAPA syndrome. Statistical group comparison and class prediction identified genes differentially expressed in SoJIA patients compared to healthy children. These genes, however, were also changed in patients with acute infections and SLE. By performing an analysis of significance across all diagnostic groups, we generated a list of 88 SoJIA-specific genes (p<0.01 in SoJIA and >0.5 in all other groups). A subset of 12/88 genes permitted us to accurately classify an independent test set of SoJIA patients with systemic disease. We were also able to identify a group of transcripts that changed significantly in patients undergoing IL-1 blockade. Thus, analysis of transcriptional signatures from SoJIA blood leukocytes can help distinguishing this disease from other febrile illnesses and assessing response to therapy. Availability of accurate diagnostic markers for SoJIA patients may allow prompt initiation of effective therapy and prevention of long-term disabilities. Experiment Overall Design: 123 RNA samples extracted from PBMCs were studied. For more details on the clinical information, please refer to the paper (PudMed ID 17724127).]" Comment[Study Grant Number] "" Comment[Study Funding Agency] "" Study Submission Date "" Study Public Release Date "2008-06-16" Study File Name "s_E-GEOD-8650_study_samples.txt" STUDY DESIGN DESCRIPTORS Study Design Type "unknown_experiment_design_type" "transcription profiling by array" Study Design Type Term Accession Number "" "" Study Design Type Term Source REF "" "" STUDY PUBLICATIONS Study PubMed ID "17724127" Study Publication DOI "10.1084/jem.20070070" Study Publication Author List "Allantaz F, Chaussabel D, Stichweh D, Bennett L, Allman W, Mejias A, Ardura M, Chung W, Smith E, Wise C, Palucka K, Ramilo O, Punaro M, Banchereau J, Pascual V." Study Publication Title "Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade." Study Publication Status "Published" Study Publication Status Term Accession Number "" Study Publication Status Term Source REF "" STUDY FACTORS Study Factor Name "" Study Factor Type "" Study Factor Type Term Accession Number "" Study Factor Type Term Source REF "" STUDY ASSAYS Study Assay File Name "a_E-GEOD-8650_GeneChip_assay.txt" Study Assay Measurement Type "transcription profiling" Study Assay Measurement Type Term Accession Number "" Study Assay Measurement Type Term Source REF "" Study Assay Technology Type "DNA microarray" Study Assay Technology Type Term Accession Number "" Study Assay Technology Type Term Source REF "" Study Assay Technology Platform "" STUDY PROTOCOLS Study Protocol Name "P-G8650-2" "P-G8650-1" "Affymetrix:Protocol:Hybridization-Unknown" "P-AFFY-6" Study Protocol Type "nucleic_acid_extraction" "labeling" "hybridization" "feature_extraction" Study Protocol Type Term Accession Number "" "" "" "" Study Protocol Type Term Source REF "" "" "" "" Study Protocol Description "RNeasy Mini" "Biotinylated cRNA were prepared according to the standard Affymetrix protocol." "Title: Affymetrix Generic Hybridization. Description: " "Title: Affymetrix CEL analysis. Description: " Study Protocol URI "" "" "" "" Study Protocol Version "" "" "" "" Study Protocol Parameters Name "" "" "" "" Study Protocol Parameters Name Term Accession Number "" "" "" "" Study Protocol Parameters Name Term Source REF "" "" "" "" Study Protocol Components Name "" "" "MicroArraySuite 5.0" "MicroArraySuite 5.0" Study Protocol Components Type "" "" "" "" Study Protocol Components Type Term Accession Number "" "" "" "" Study Protocol Components Type Term Source REF "" "" "" "" STUDY CONTACTS Study Person Last Name "Allantaz" Study Person First Name "Florence" Study Person Mid Initials "" Study Person Email "florenca@baylorhealth.edu" Study Person Phone "" Study Person Fax "" Study Person Address "Baylor Institute for Immunology Research, 3434 Live Oak Street, Dallas, 75204, USA" Study Person Affiliation "Baylor Institute for Immunology Research" Study Person Roles "submitter" Study Person Roles Term Accession Number "" Study Person Roles Term Source REF "" Comment[Study Person REF] ""