Ontology highlight
ABSTRACT:
PROVIDER: PRJNA690210 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B)
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Project description:A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family A)
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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
Project description:An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
2019-05-14 | E-GEOD-57253 | ExpressionAtlas
Project description:SIFD (Congenital sideroblastic anemia, B-cell immunodeficiency, Periodic fevers and Developmental delay) Syndrome is caused by biallelic mutations in tRNA nucleotidyltransferase CCA-adding, 1 (TRNT1) gene. The onset of the disease is usually neonatal or in early infancy and the clinical presentation is widely heterogeneous. Myelodysplastic syndromes (MDS) with ring sideroblasts, which is characterised by somatic mutations in SF3B1 gene in more than 80% of cases, have never been reported as associated with SIFD Syndrome. Here we report a case of an adult male patient with a novel non-sense heterozygous mutation in TRNT1 gene, which developed MDS with somatic K700E SF3B1 mutation and trisomy 8. WES revealed additional somatic variations affecting genes implicated in cell proliferation, apoptosis and DNA mismatch repair: ARID1A, HERC1, IL4R, TMEM260 and CDKL3. Besides the typical recurrent aseptic pneumonias and sinopulmonary bacterial infections, he developed lymphohistiocytic subcutaneous panniculitis and subsequently a subcutaneous panniculitis-like T-cell lymphoma (SPTCL), suggesting that predisposition in the TRNT1 positive syndrome extends to both lymphoid and myeloid neoplasms. This report is particularly relevant to provide insights on the hematological impact of TRNT1 positive syndrome in adults and to improve early diagnosis and management of this rare disease.
2020-09-14 | GSE120007 | GEO
Project description:We are interested in deciphering the mechanism by which DNA methylation in late B cell differentiation affects humoral immune response. We were using enzymatic-methyl sequencing (EM-seq) and chose to study a very rare immunodeficiency called ICF type 4, where a point mutation in a gene encoding the protein HELLS causes a lack of both circulating antibodies and memory B cells in human. HELLS is a chromatin remodeler, that allows for DNA methylation to occur.
2023-07-27 | E-MTAB-12609 | biostudies-arrayexpress
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:The immunodeficiency, centromere instability and facial anomalies (ICF) syndrome is associated with mutation of the DNA methyl-transferase DNMT3B, resulting in a reduction of enzyme activity. Aberrant expression of immune system genes and hypomethylation of pericentromeric regions accompanied by chromosomal instability were determined as alterations driving the disease phenotype. However, so far only technologies capable of analyzing single loci were applied to determine epigenetic alterations in ICF patients. In the current study, we performed whole-genome bisulphite sequencing to assess alteration in DNA methylation at base-pair resolution. Whole-genome bisulphite sequencing was performed to assess alteration in DNA methylation of one ICF patient and one healthy control sample at base-pair resolution.
2012-04-25 | E-GEOD-37578 | biostudies-arrayexpress
Project description:Enlarged vestibular aqueducts (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable number of patients appear to carry mono-allelic mutation. This suggests faulty pendrin regulatory machinery results in hearing loss. Here we identify EPHA2 as another causative gene of Pendred syndrome with SLC26A4. EphA2 forms a protein complex with pendrin controlling pendrin localization, which is disrupted in some pathogenic forms of pendrin. Moreover, point mutations leading to amino acid substitution in the EPHA2 gene are identified from patients bearing mono-allelic mutation of SLC26A4. Ephrin-B2 binds to EphA2 triggering internalization with pendrin inducing EphA2 autophosphorylation weakly. The identified EphA2 mutants attenuate ephrin-B2- but not ephrin-A1-induced EphA2 internalization with pendrin. Our results uncover an unexpected role of the Eph/ephrin system in epithelial function.
2020-04-22 | PXD017011 | Pride