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Broad spectrum antibodies to self-antigens and cytokines in RAG deficiency

ABSTRACT: 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.

ORGANISM(S): synthetic construct Homo sapiens

PROVIDER: GSE70618 | GEO | 2015/07/08

SECONDARY ACCESSION(S): PRJNA289166

REPOSITORIES: GEO

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Broad spectrum antibodies to self-antigens and cytokines in RAG deficiency

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

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2019-10-11 | PXD015778 | Pride

RNA-seq analysis of pro-B cells from RAG, double RAG/Emu, double RAG/3'RR and double RAG/KOKI deficient mice.

Project description:RNA-seq analysis of pro-B cells from RAG, double RAG/Emu, double RAG/3'RR and double RAG/KOKI deficient mice.

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Project description:Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare genetic disorder with the cause previously unknown. Symptoms of CID-MIA include atresias in the small and/or large intestine, as well as immunodeficiency. In this study, we sequenced the whole exome of 5 unrelated CID-MIA patients as well as their healthy family members, and identified deleterious homozygous or compound heterozygous mutations in the gene TTC7A in all the 5 patients, as well as in 3 additional patients with Sanger sequencing. Our findings strongly indicate TTC7A dysfunction to be the cause for CID-MIA.

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Broad spectrum antibodies to self-antigens and cytokines in RAG deficiency

Project description:Broad spectrum antibodies to self-antigens and cytokines in RAG deficiency

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Genotyping data for seven patients from three unrelated, consanguineous multiplex families that presented with combined immunodeficiency, and were found to harbour mutations in CARMIL2

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On-target and Off-target Activities of RAG Are Restricted by Topological Chromatin Domains

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