Ontology highlight
ABSTRACT:
PROVIDER: PRJNA477357 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Bcl11b defect in a human severe combined immunodeficiency with multisystem anomalies
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Project description:Modeling Human Severe Combined Immunodeficiency and Correction by CRISPR/Cas9 Enhanced Gene Replaceme
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Project description:Whole exome sequencing (WES) files of a patient suffering from a combined immunodeficiency, and his parents.
2014-10-31 | E-MTAB-2962 | biostudies-arrayexpress
Project description:Severe combined immunodeficiency (SCID) occurs in various species, including humans, at a frequency as high as one per 50,000 live births. Generally, SCID can be classified according to the cause of the immunodeficiency, and it includes impaired cytokine-mediated signalling, defective V(D)J recombination, impaired pre-T-cell receptor signalling, and metabolic enzyme deficiencies. Although mice with disrupted SCID-causing genes have provided important insights into the human disease, not all the SCID mice have phenotypes that resemble those in human SCID patients. In humans, most SCID patients are reported to have impaired cytokine-mediated signalling in immune cells. IL2RG is a key component of the immune system, which is associated with the development of X-linked SCID in humans. Despite some phenotypic characterisations and functional studies being performed in SCID animals, little is known about the molecular basis of the different phenotypes of SCID in mouse and pig. In the present experiment, we generated monoallelic IL2RG (mIL2RG+/Δ69-368) KO pigs and investigated patterns of gene expression during their immune development in order to further explore our understanding of immune responses in X-linked SCID.
2016-09-27 | GSE77581 | GEO
Project description:Severe combined immunodeficiency (SCID) occurs in various species, including humans, at a frequency as high as one per 50,000 live births. Generally, SCID can be classified according to the cause of the immunodeficiency, and it includes impaired cytokine-mediated signalling, defective V(D)J recombination, impaired pre-T-cell receptor signalling, and metabolic enzyme deficiencies. Although mice with disrupted SCID-causing genes have provided important insights into the human disease, not all the SCID mice have phenotypes that resemble those in human SCID patients. In humans, most SCID patients are reported to have impaired cytokine-mediated signalling in immune cells. IL2RG is a key component of the immune system, which is associated with the development of X-linked SCID in humans. Despite some phenotypic characterisations and functional studies being performed in SCID animals, little is known about the molecular basis of the different phenotypes of SCID in mouse and pig. In the present experiment, we generated monoallelic IL2RG (mIL2RG+/Δ69-368) KO pigs and investigated patterns of gene expression during their immune development in order to further explore our understanding of immune responses in X-linked SCID.
2016-09-27 | GSE77580 | GEO
Project description:Severe combined immunodeficiency (SCID) occurs in various species, including humans, at a frequency as high as one per 50,000 live births. Generally, SCID can be classified according to the cause of the immunodeficiency, and it includes impaired cytokine-mediated signalling, defective V(D)J recombination, impaired pre-T-cell receptor signalling, and metabolic enzyme deficiencies. Although mice with disrupted SCID-causing genes have provided important insights into the human disease, not all the SCID mice have phenotypes that resemble those in human SCID patients. In humans, most SCID patients are reported to have impaired cytokine-mediated signalling in immune cells. IL2RG is a key component of the immune system, which is associated with the development of X-linked SCID in humans. Despite some phenotypic characterisations and functional studies being performed in SCID animals, little is known about the molecular basis of the different phenotypes of SCID in mouse and pig. In the present experiment, we generated monoallelic IL2RG (mIL2RG+/Δ69-368) KO pigs and investigated patterns of gene expression during their immune development in order to further explore our understanding of immune responses in X-linked SCID.
2016-09-27 | GSE77579 | GEO
Project description:Overall, this work describes the largest cohort of patients with RAG mutations and an associated phenotype consisting of combined immunodeficiency and granulomatous lesions and/or autoimmunity (CID-G/AI). By using multiple methods (microarray, ELISA and multiplex bead technology), we have consistently identified a distinctive signature of anti-cytokine antibodies in patients with RAG-dependent immunodeficiencies, especially in those with CID-G/AI and a history of severe viral infections. These autoantibodies were not detected in a large panel of patients with other forms of primary immunodeficiency, and may therefore represent a novel biomarker panel of this condition. Known autoantigens, cytokines, chemokines, growth factors and receptors were printed onto microarrays. All targets were printed in triplicate. Arrays were probed with diluted plasma and autoantibodies were detected with a AF647 conjugated anti-human IgG secondary.
2015-07-08 | E-GEOD-70618 | biostudies-arrayexpress
Project description:Reticular Dysgenesis (RD) is a rare but devastating form of severe combined immunodeficiency, characterized by a maturation arrest of the myeloid and lymphoid lineages paired with sensorineural hearing loss. RD is caused by biallelic loss-of-function mutations in the mitochondrial enzyme adenylate kinase 2 (AK2). To study the effect of AK2 depletion on HSPC differentiation, we developed a biallelic AK2 CRISPR knock-out model using human HSPCs. AK2 depleted HSPCs display severe proliferation and myeloid differentiation defects, recapitulating RD patient phenotype.
2021-07-06 | GSE179320 | GEO