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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)- Predisposition to severe viral infection: IRF7 deficiency, Phenotype OMIM number Not yet assigned

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

- AR : Autosomal Recessive

Purpose

IRF7 plays a critical role in the production and amplification of the antiviral type I and III interferon response. Autosomal recessive IRF7-deficiency resulted in life-threatening influenza disease in a 3-year-old child. We studied the impact of IRF7-deficiency in non-hematopoietic tissues (fibroblasts and lung epithelial cells) as well in hematopoietic cells (peripheral blood mononuclear cells (PBMCs)). Genome-wide gene expression analysis demonstrated a profound loss of type I and III IFNs in PBMCs infected with influenza virus.

Hypothesis

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Experimental Design

PBMCs were isolated from 4 healthy donors and patients with deficiencies for IRF7 and UNC93B. The cells were infected with influenza virus A/CA/4/2009 at a multiplicity of infection (MOI) of 2 for 8 and 16 hours. Uninfected cells were cultured for 16 hours.

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 v4
18 Samples Loaded: 18
Human (Homo sapiens)
PBMC
IRF-7 deficiency
Sample Set Spreadsheet
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Samples Preview
Sample ID !Sample Title group Cell type Infected with Subject status
GSM1623213 Ctrl1 NS Control No stimulus PBMC none for 16hrs (uninfected control) healthy donor
GSM1623214 Ctrl1 FLU_8h Control Flu 8h PBMC influenza virus A/CA/4/2009 for 8hrs healthy donor
GSM1623215 Ctrl1 FLU_16h Control Flu 16h PBMC influenza virus A/CA/4/2009 for 16hrs healthy donor
GSM1623216 Ctrl2 NS Control No stimulus PBMC none for 16hrs (uninfected control) healthy donor
GSM1623217 Ctrl2 FLU_8h Control Flu 8h PBMC influenza virus A/CA/4/2009 for 8hrs healthy donor
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File
sampleset4000034_sampleannotations_Group.csv
Sample Set Spreadsheet
sampleset4000034_sampleannotations_Group.csv
Sample Set Spreadsheet
sampleset4000034_sampleannotations_Group.csv
Sample Set Spreadsheet
sampleset4000034_sampleannotations_Group.csv
Sample Set Spreadsheet
Raw Signal
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Samples Viewer / Editor

All fields are editable except the "Sample ID" column. To edit a cell, click within the cell. To edit a "date" cell, click on the calendar icon. To cancel an edit, press the ESC key.

Sample ID !Sample Title Group Cell type Infected with Subject status
GSM1623213
Ctrl1 NS
Control No stimulus
PBMC
none for 16hrs (uninfected control)
healthy donor
GSM1623214
Ctrl1 FLU_8h
Control Flu 8h
PBMC
influenza virus A/CA/4/2009 for 8hrs
healthy donor
GSM1623215
Ctrl1 FLU_16h
Control Flu 16h
PBMC
influenza virus A/CA/4/2009 for 16hrs
healthy donor
GSM1623216
Ctrl2 NS
Control No stimulus
PBMC
none for 16hrs (uninfected control)
healthy donor
GSM1623217
Ctrl2 FLU_8h
Control Flu 8h
PBMC
influenza virus A/CA/4/2009 for 8hrs
healthy donor
GSM1623218
Ctrl2 FLU_16h
Control Flu 16h
PBMC
influenza virus A/CA/4/2009 for 16hrs
healthy donor
GSM1623219
Ctrl3 NS
Control No stimulus
PBMC
none for 16hrs (uninfected control)
healthy donor
GSM1623220
Ctrl3 FLU_8h
Control Flu 8h
PBMC
influenza virus A/CA/4/2009 for 8hrs
healthy donor
GSM1623221
Ctrl3 FLU_16h
Control Flu 16h
PBMC
influenza virus A/CA/4/2009 for 16hrs
healthy donor
GSM1623222
Ctrl4 NS
Control No stimulus
PBMC
none for 16hrs (uninfected control)
healthy donor
GSM1623223
Ctrl4 FLU_8h
Control Flu 8h
PBMC
influenza virus A/CA/4/2009 for 8hrs
healthy donor
GSM1623224
Ctrl4 FLU_16h
Control Flu 16h
PBMC
influenza virus A/CA/4/2009 for 16hrs
healthy donor
GSM1623225
UNC93B-/- NS
AR UNC93B No stimulus
PBMC
none for 16hrs (uninfected control)
patients with deficiencies for UNC93B
GSM1623226
UNC93B-/- FLU_8h
AR UNC93B Flu 8h
PBMC
influenza virus A/CA/4/2009 for 8hrs
patients with deficiencies for UNC93B
GSM1623227
UNC93B-/- FLU_16h
AR UNC93B Flu 16h
PBMC
influenza virus A/CA/4/2009 for 16hrs
patients with deficiencies for UNC93B
GSM1623228
IRF7-/- NS
AR IRF7 No stimulus
PBMC
none for 16hrs (uninfected control)
patients with deficiencies for IRF7
GSM1623229
IRF7-/- FLU_8h
AR IRF7 Flu 8h
PBMC
influenza virus A/CA/4/2009 for 8hrs
patients with deficiencies for IRF7
GSM1623230
IRF7-/- FLU_16h
AR IRF7 Flu 16h
PBMC
influenza virus A/CA/4/2009 for 16hrs
patients with deficiencies for IRF7

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