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In Progress
Clinical

Dataset with samples from Individuals with:

A- defects in Intrinsic and Innate Immunity:

1)- Herpes simplex encephalitis (HSE): UNC93B1 deficiency, Phenotype OMIM number 610551

2)- TLR signaling pathway deficiency:

- MyD88 deficiency, Phenotype OMIM number 612260

- IRAK-4 deficiency, Phenotype OMIM number 607676

3)- Predisposition to severe viral infection: STAT1 deficiency, Phenotype OMIM number 613796

B- Autoinflammatory disorders:

1)- Defects effecting the inflammasome:

- Muckle-Wells syndrome (MWS), Phenotype OMIM number 191900

- Chronic infantile neurological cutaneous articular syndrome (CINCA), Phenotype OMIM number 607115

- Mevalonate kinase deficiency (MVK), Phenotype OMIM number 260920

PID classification: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659841/

Purpose

HOIL1 deficient disease is a new early onset fatal autosomal recessive human disorder charaterized by chronic auto-inflammation, recurrent invasive bacterial infections and progressive muscular amylopectinosis. We studied the transcriptional profiles of whole blood from one HOIL dificient patient and other auto-inflammatory patients, including CINCA, Muckle-Wells syndrome and MVK deficiency.

Hypothesis

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Experimental Design

Whole blood was collected in Tempus tubes from 41 healthy children and patients with CINCA (2), MWS (5), MVK deficiency (2) and HOIL deficiency (1) diseases. RNA was extracted and globin reduced. Labeled cRNA was hybridized to Illumina Human HT-12 Beadchips.

Experimental Variables

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Controls

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Methods

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Additional Information

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Microarray
Illumina HumanHT-12 v3
51 Samples Loaded: 51
Human (Homo sapiens)
Whole Blood
STAT1 deficiency
Sample Set Spreadsheet
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Samples Preview
Sample ID !Sample Title tissue group
GSM996577 H037 whole blood Healthy
GSM996578 H127 whole blood Healthy
GSM996579 H153 whole blood Healthy
GSM996580 H155 whole blood Healthy
GSM996581 H159 whole blood Healthy
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File
sampleset4000036_sampleannotations_Group.csv
Sample Set Spreadsheet
sampleset4000036_sampleannotations_Group.csv
Sample Set Spreadsheet
Raw Signal
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Sample ID !Sample Title Tissue Group
GSM996577
H037
whole blood
Healthy
GSM996578
H127
whole blood
Healthy
GSM996579
H153
whole blood
Healthy
GSM996580
H155
whole blood
Healthy
GSM996581
H159
whole blood
Healthy
GSM996582
H164
whole blood
Healthy
GSM996583
H184
whole blood
Healthy
GSM996584
H198
whole blood
Healthy
GSM996585
H199
whole blood
Healthy
GSM996586
H200
whole blood
Healthy
GSM996587
H201
whole blood
Healthy
GSM996588
H202
whole blood
Healthy
GSM996589
H204
whole blood
Healthy
GSM996590
H205
whole blood
Healthy
GSM996591
H213
whole blood
Healthy
GSM996592
H219
whole blood
Healthy
GSM996593
H220
whole blood
Healthy
GSM996594
H225
whole blood
Healthy
GSM996595
H226
whole blood
Healthy
GSM996596
H228
whole blood
Healthy
GSM996597
H229
whole blood
Healthy
GSM996598
H231
whole blood
Healthy
GSM996599
H240
whole blood
Healthy
GSM996600
H241
whole blood
Healthy
GSM996601
H244
whole blood
Healthy
GSM996602
H256
whole blood
Healthy
GSM996603
H257
whole blood
Healthy
GSM996604
H275
whole blood
Healthy
GSM996605
H287
whole blood
Healthy
GSM996606
H288
whole blood
Healthy
GSM996607
H289
whole blood
Healthy
GSM996608
H332
whole blood
Healthy
GSM996609
H646
whole blood
Healthy
GSM996610
H996
whole blood
Healthy
GSM996611
H192
whole blood
Healthy
GSM996612
H1181
whole blood
Healthy
GSM996613
H1183
whole blood
Healthy
GSM996614
H1239
whole blood
Healthy
GSM996615
H1242
whole blood
Healthy
GSM996616
H1245
whole blood
Healthy
GSM996617
H1246
whole blood
Healthy
GSM996618
P1
whole blood
HOIL dificiency
GSM996619
CINCA05
whole blood
CINCA syndrome
GSM996620
CINCA06
whole blood
CINCA syndrome
GSM996621
MWS11
whole blood
MWS
GSM996622
MWS12
whole blood
MWS
GSM996623
MVK271
whole blood
MVK deficiency
GSM996624
MVK272
whole blood
MVK deficiency
GSM996625
MWS56
whole blood
MWS
GSM996626
MWS57
whole blood
MWS
GSM996627
MWS81
whole blood
MWS

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