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In Progress
Clinical

Dataset with samples from Individuals with:

A- Diseases of immune dysregulation:

1)- STAT3 GOF mutations: mutations in STAT3, Phenotype OMIM number 615952

Purpose

IL-21 induces B cell activation, and differentiation into antibody-secreting plasmablasts in vitro. This process is abolished by loss-of function mutations in STAT3We used microarrays to identify genes that are induced by IL-21 in a STAT3-dependent manner

Hypothesis

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Experimental Design

Sort-purified naïve B cells from four healthy donors and three patients with AD-HIES due to heterozygous STAT3 mutations were cultured for four days with CD40L in the presence or absence of IL-21 (50ng/ml). After four days, RNA was extracted from the harvested cells and the genetic profile was analysed by microarray.

Experimental Variables

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Controls

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Methods

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Additional Information

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Microarray
Affymetrix HuGene 1.0 ST v1
14 Samples Loaded: 14
Human (Homo sapiens)
B cells
Stat3 deficiency
Sample Set Spreadsheet
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Samples Preview
Sample ID !Sample Title !Sample_title cell type group diagnosis
GSM1248745 na��ve B cells CD40L alone; donor 1 naïve B cells CD40L alone; donor 1 naïve B cells Control B cells CD40L healthy
GSM1248746 na��ve B cells CD40L alone; donor 2 naïve B cells CD40L alone; donor 2 naïve B cells Control B cells CD40L healthy
GSM1248747 na��ve B cells CD40L alone; donor 3 naïve B cells CD40L alone; donor 3 naïve B cells Control B cells CD40L healthy
GSM1248748 na��ve B cells CD40L alone; donor 4 naïve B cells CD40L alone; donor 4 naïve B cells Control B cells CD40L healthy
GSM1248749 na��ve B cells CD40L/IL-21; donor 1 naïve B cells CD40L/IL-21; donor 1 naïve B cells Control B cells CD40L IL-21 healthy
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File
sampleset4000044_sampleannotations_Group.csv
Sample Set Spreadsheet
Raw Signal
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Sample ID !Sample Title !Sample Title Cell type Group Diagnosis Cell type
GSM1248745
na��ve B cells CD40L alone; donor 1
naïve B cells CD40L alone; donor 1
naïve B cells
Control B cells CD40L
healthy
na��ve B cells
GSM1248746
na��ve B cells CD40L alone; donor 2
naïve B cells CD40L alone; donor 2
naïve B cells
Control B cells CD40L
healthy
na��ve B cells
GSM1248747
na��ve B cells CD40L alone; donor 3
naïve B cells CD40L alone; donor 3
naïve B cells
Control B cells CD40L
healthy
na��ve B cells
GSM1248748
na��ve B cells CD40L alone; donor 4
naïve B cells CD40L alone; donor 4
naïve B cells
Control B cells CD40L
healthy
na��ve B cells
GSM1248749
na��ve B cells CD40L/IL-21; donor 1
naïve B cells CD40L/IL-21; donor 1
naïve B cells
Control B cells CD40L IL-21
healthy
na��ve B cells
GSM1248750
na��ve B cells CD40L/IL-21; donor 2
naïve B cells CD40L/IL-21; donor 2
naïve B cells
Control B cells CD40L IL-21
healthy
na��ve B cells
GSM1248751
na��ve B cells CD40L/IL-21; donor 3
naïve B cells CD40L/IL-21; donor 3
naïve B cells
Control B cells CD40L IL-21
healthy
na��ve B cells
GSM1248752
na��ve B cells CD40L/IL-21; donor 4
naïve B cells CD40L/IL-21; donor 4
naïve B cells
Control B cells CD40L IL-21
healthy
na��ve B cells
GSM1248753
na��ve B cells CD40L alone; AD-HIES pt 1
naïve B cells CD40L alone; AD-HIES pt 1
naïve B cells
AD Stat3 B cells CD40L
Autosomal dominant hyper IgE syndrome (AD-HIES)
na��ve B cells
GSM1248754
na��ve B cells CD40L alone; AD-HIES pt 2
naïve B cells CD40L alone; AD-HIES pt 2
naïve B cells
AD Stat3 B cells CD40L
Autosomal dominant hyper IgE syndrome (AD-HIES)
na��ve B cells
GSM1248755
na��ve B cells CD40L alone; AD-HIES pt 3
naïve B cells CD40L alone; AD-HIES pt 3
naïve B cells
AD Stat3 B cells CD40L
Autosomal dominant hyper IgE syndrome (AD-HIES)
na��ve B cells
GSM1248756
na��ve B cells CD40L/IL-21; AD-HIES pt 1
naïve B cells CD40L/IL-21; AD-HIES pt 1
naïve B cells
AD Stat3 B cells CD40L IL-21
Autosomal dominant hyper IgE syndrome (AD-HIES)
na��ve B cells
GSM1248757
na��ve B cells CD40L/IL-21; AD-HIES pt 2
naïve B cells CD40L/IL-21; AD-HIES pt 2
naïve B cells
AD Stat3 B cells CD40L IL-21
Autosomal dominant hyper IgE syndrome (AD-HIES)
na��ve B cells
GSM1248758
na��ve B cells CD40L/IL-21; AD-HIES pt 3
naïve B cells CD40L/IL-21; AD-HIES pt 3
naïve B cells
AD Stat3 B cells CD40L IL-21
Autosomal dominant hyper IgE syndrome (AD-HIES)
na��ve B cells

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