IL-21 induces B cell activation, and differentiation into antibody-secreting plasmablasts in vitro. This process is abolished by loss-of function mutations in STAT3
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.
Specimen part, Disease
View SamplesHyper IgE Recurrent Infection Syndrome (HIES or Jobs syndrome), is a rare disorder of immunity and connective tissue, typically manifest with boils, cyst-forming pneumonias, and extremely elevated serum IgE as well as retained primary dentition and bone abnormalities. Inheritance can be autosomal dominant.
STAT3 mutations in the hyper-IgE syndrome.
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View SamplesWe identified 18 patients with the distinct clinical phenotype of disseminated nontuberculous mycobacterial infections, viral infections, especially with human papillomaviruses, and fungal infections, primarily histoplasmosis and molds. This syndrome typically had its onset in adulthood and was characterized by profound circulating monocytopenia, B lymphocytopenia, and NK lymphocytopenia. T lymphocytes were variably affected. Despite these peripheral cytopenias, all patients had macrophages and plasma cells at sites of inflammation and normal immunoglobulin levels. This novel clinical syndrome links mycobacterial, viral, and fungal susceptibility with malignancy and is transmitted in an autosomal dominant pattern.
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.
Specimen part, Disease, Disease stage, Subject
View SamplesPeripheral blood lymphocytes were separated in the Ficoll gradient and subjected for stimulation with anti-CD3 and anti-CD28 antiobodies upon time (6h, 12h and 18h). Next, total RNA was isolated and trenscriptional analysis of stimulated cells was performed.
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Time
View SamplesIL-21 induces B cell activation, and differentiation into antibody-secreting plasmblasts in vitro. This process is compromised in transitional B cells to gain of function mutations in PIK3CD
Germline-activating mutations in <i>PIK3CD</i> compromise B cell development and function.
Specimen part, Disease
View SamplesWe report genome-wide expression changes that occur in mouse bone marrow-derived mesenchymal stem cells treated in triplicate for 24 hours with or without Cytochalasin D and/or CK666. mRNA-Seq analysis shows that both cell surface and the nucleus undergo phenotypic changes. Cytochalasin D enhanced expression of genes involved in pathways known to regulate osteoblast differentiation, including genes involved in development and cell signaling, including calcium ion binding, WNT and PI3K/AKT pathway. In summary, RNA-seq data reveal that the CytoD activates genes linked to osteogenesis, while CK666stimulates adipogenic genes. Overall design: Bone marrow-derived MSCs were maintained in MEM containing 10% fetal bovine serum, 100 µg/ml penicillin/streptomycin. For experiments, the cells were plated at a density of 10,000 cells/cm2 in 6-well culture plates and cultured for 1 day prior to application of treatments. Cells were treated with CytochalasinD and/or CK666 for 24h followed by preparation for RNA isolation. Purified RNA was then submitted for RNA-sequencing.
Intranuclear Actin Structure Modulates Mesenchymal Stem Cell Differentiation.
Specimen part, Subject
View SamplesAscertain the effects of disease-causing gene mutations on the differentiation status of human nave CD4+ T cells in the setting of primary immunodeficiencies. Thus, do CD4+ T cells isolated according to a nave surface phenotype (ie CD4+CD45RA+CCR7+) from healthy donors exhibit a similar gene expression profile as phenotpyically-matched cells isolated from individuals with defined primary immunodeficiencies caused by specific monogenic mutations.
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.
Specimen part
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