Dataset with samples from Individuals with:
A- Diseases of immune dysregulation:
1)- STAT3 GOF mutations: mutations in STAT3, Phenotype OMIM number 615952
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
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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.
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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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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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