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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B)

ABSTRACT: Affymetrix 6.0 SNP data for haplotype comparison of patients from two different families sharing the same homozygous mutation in TFRC, to determine if the families were related to each other Peripheral blood was used for patients who had no history of hematopoietic stem cell transplant (HSCT). Fibroblasts cell lines were used as a source of DNA for the individual who received HSCT.

ORGANISM(S): Homo sapiens

PROVIDER: GSE75349 | GEO | 2015/11/25

SECONDARY ACCESSION(S): PRJNA304000

REPOSITORIES: GEO

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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B)

Project description:Affymetrix 6.0 SNP data for haplotype comparison of patients from two different families sharing the same homozygous mutation in TFRC, to determine if the families were related to each other Peripheral blood was used for patients who had no history of hematopoietic stem cell transplant (HSCT). Fibroblasts cell lines were used as a source of DNA for the individual who received HSCT. Genomic DNA from 3 subjects (2 from Family A, 1 from Family B in duplicate) was genotyped at 909,622 single nucleotide polymorphisms (SNPs) on the Genome-Wide Human SNP 6.0 Array (Affymetrix).

2015-11-25 | E-GEOD-75349 | biostudies-arrayexpress

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family A)

2015-11-25 | GSE75314 | GEO

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family A)

Project description:Affymetrix 6.0 SNP data for genome-wide linkage scans of a consanguineous Kuwaiti family with a combined immunodeficiency Peripheral blood or saliva were used for patients who had no history of hematopoietic stem cell transplant (HSCT). Fibroblasts cell lines were used as a source of DNA for individuals who received HSCT. Genomic DNA from 32 subjects (5 affected and 27 unaffected) from Family A was genotyped at 909,622 single nucleotide polymorphisms (SNPs) on the Genome-Wide Human SNP 6.0 Array (Affymetrix).

2015-11-25 | E-GEOD-75314 | biostudies-arrayexpress

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Project description:This SuperSeries is composed of the SubSeries listed below.

2015-11-25 | GSE75358 | GEO

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2015-11-25 | E-GEOD-75358 | biostudies-arrayexpress

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

Project description: Not available

| S-EPMC4696875 | biostudies-literature

TfRc Dependent Gene Expression in Embryonic Renal Cells

2008-08-01 | GSE7396 | GEO

Effect of R22W mutation in TFRC gene on gene expression in PBMCs

Project description:TFRC, also known as CD71, regulates the uptake of transferrin-bound iron into cells through receptor-mediated endocytosis. In a patient with a combined immunodeficiency, we identified a homozygous missense mutation in TFRC gene leading to R22W amino acid change in the cytoplasmic tail of the receptor. This mutation impairs the endocytosis of TFRC, which results in profound aberrations in the immune system.

2024-01-31 | GSE243237 | GEO

Transcription profiling of mouse TfRc deficient and wild type renalcells in chimeric embryonic kidneys derived from embryos created by blastocyst injection

Project description:We investigated the ability of transferrin receptor1 (TfRc) knockout cells to populate different domains of the developing kidney by using a chimeric approach. The TfRc cells developed into all segments of the developing nephron, but there was a relative exclusion from the ureteric bud and a positive bias towards the stromal compartment. Here we conducted a microarray analysis of differential gene expression between TfRc deficient and wild type (wt) cells in chimeric embryonic kidneys derived from embryos created by blastocyst injection of wt blastocysts with TfRc-/- green fluorescent protein-expressing (GFP+) embryonic stem cells. Experiment Overall Design: Following blastocyst injection of 3-5 TfRc-/- GFP+ embryonic stem cells in wt blstocysts, we harvested the chimeric kidney at day E15.5 and separated the TfRc-/- GFP+ cell population from wt GFP- cell population by using fluorescence activated cell sorting. Biotinlyated cRNA was prepared from the isolated cells and hybridized to Mouse Genome 430 2.0 Arrays (Affymetrix) according to standard protocols.

2008-10-18 | E-GEOD-7396 | biostudies-arrayexpress

Impact of Tfrc deficiency on gut microbiome [16s rRNA-seq]

Project description:Iron metabolism is pivotal for cell fitness in the mammalian host. However, its role in group 3 innate lymphoid cells (ILC3s) is unknown. Here we show that transferrin receptor CD71-mediated iron metabolism cell-intrinsically controls ILC3 maintenance, cytokine production and host protection against Citrobacter rodentium infection, and metabolically affects mitochondrial respiration by switching of oxidative phosphorylation toward glycolysis. Iron deprivation or Tfrc deficiency reduces the expression and/or activity of the aryl hydrocarbon receptor (Ahr), a ligand-dependent transcription factor and a key ILC3 regulator. Furthermore, consistent with its role in generation of Ahr ligand, microbiome exerts a negative impact on CD71 expression in an Ahr-dependent manner. Genetic ablation or activation of Ahr in ILC3s leads to CD71 upregulation or downregulation, respectively, suggesting an active suppression of CD71 by Ahr. Iron overload partially restores defective ILC3 compartment in the small intestine of Ahr-deficient mice, representing compensatory action of CD71 upregulation during Ahr deficiency. Mechanistically, Ahr directly binds to the promoter region of the Tfrc locus to inhibit Tfrc transcription. These data collectively demonstrate an under-appreciated role of the Ahr-CD71-iron axis in regulation of ILC3 maintenance and function.

2023-07-10 | GSE222620 | GEO

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