Similar Datasets
Project description:Bcl11b defect in a human severe combined immunodeficiency with multisystem anomalies
| PRJNA335768 | ENA
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: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.
2015-07-08 | GSE70618 | GEO
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
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:Bi-allelic, loss-of-function PAX1 variants underlie a syndromic form of severe combined immunodeficiency (SCID) by disrupting thymus development. To assess if bi-allelic PAX1 variants affect differentiation of thymic epithelial cells in vitro, we reprogrammed fibroblasts from a healthy control and two patients with bi-allelic pathogenic PAX1 variants to induced pluripotent stem cells (iPSCs), and subsequently differentiated these to thymic epithelial progenitor cells (TEP).
2020-02-15 | GSE138784 | GEO
Project description:Modeling Human Severe Combined Immunodeficiency and Correction by CRISPR/Cas9 Enhanced Gene Replaceme
| PRJNA278158 | ENA
Project description:HIRA is a histone chaperone that deposits the histone variant H3.3 in transcriptionally active genes. HIRA is essential for mouse development, as the standard knockout (KO) results in early embryonic death. However, the role of HIRA in hematopoiesis is poorly understood. We investigated the effect of Hira KO on hematopoiesis using Vav-Cre Loxp system. We show that Hira KO dramatically reduces bone marrow LSK cells, resulting in anemia, thrombopenia and severe, combined immunodeficiency. To investigate the molecular mechanisms, RNA-seq and ATAC-Seq were performed using LSK cells isolated from WT and Hira conditional KO mice.
2020-06-30 | GSE125154 | GEO
Project description:Severe combined immunodeficiency 8 (IMD8) is caused by mutations in the human Coronin 1A (Coro1A). The clinical presentation of IMD8 patients is characterized by recurrent bacterial infections, suggesting an important role of Coro1A in innate immunity. To analyze the molecular mechanism of Coro1A during neutrophil recruitment, we identified the Coro1A interactome by conducting co-immunoprecipitation (Co-IP) experiments using GFP NanoTrap technology and subsequent mass spectrometry (LC-MS/MS) using human neutrophil-like differentiated HL-60 (dHL-60) cells stably expressing Coro1A-EGFP (dHL-60-Coro1A-EGFP) cells.
2017-06-29 | PXD004635 | Pride