| http://purl.uniprot.org/citations/37407873 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37407873 | http://www.w3.org/2000/01/rdf-schema#comment | "MECOM deficiency is a recently identified inborn error of immunity and inherited bone marrow failure syndrome caused by haploinsufficiency of the hematopoietic transcription factor MECOM. It is unique among inherited bone marrow failure syndromes, many of which present during later childhood or adolescence, because of the early age of onset and severity of the pancytopenia, emphasizing the importance and gene dose dependency of MECOM during hematopoiesis. B-cell lymphopenia and hypogammaglobulinemia have been described in a subset of patients with MECOM deficiency. While the mechanisms underlying the B-cell deficiency are currently unknown, recent work has provided mechanistic insights into the function of MECOM in hematopoietic stem cell (HSC) maintenance. MECOM binds to regulatory enhancers that control the expression of a network of genes essential for HSC maintenance and self-renewal. Heterozygous mutations, as seen in MECOM-deficient bone marrow failure, lead to dysregulated MECOM network expression. Extra-hematopoietic manifestations of MECOM deficiency, including renal and cardiac anomalies, radioulnar synostosis, clinodactyly, and hearing loss, have been reported. Individuals with specific genotypes have some of the systemic manifestations with isolated mild thrombocytopenia or without hematologic abnormalities, highlighting the tissue specificity of mutations in some MECOM domains. Those infants with MECOM-associated bone marrow failure require HSC transplantation for survival. Here, we review the expanding cohort of patient phenotypes and accompanying genotypes resulting in MECOM deficiency, and the proposed mechanisms underlying MECOM regulation of human HSC maintenance and B-cell development."xsd:string |
| http://purl.uniprot.org/citations/37407873 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10875-023-01545-0"xsd:string |
| http://purl.uniprot.org/citations/37407873 | http://purl.uniprot.org/core/author | "Sankaran V.G."xsd:string |
| http://purl.uniprot.org/citations/37407873 | http://purl.uniprot.org/core/author | "Voit R.A."xsd:string |
| http://purl.uniprot.org/citations/37407873 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37407873 | http://purl.uniprot.org/core/name | "J Clin Immunol"xsd:string |
| http://purl.uniprot.org/citations/37407873 | http://purl.uniprot.org/core/pages | "1052-1066"xsd:string |
| http://purl.uniprot.org/citations/37407873 | http://purl.uniprot.org/core/title | "MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development."xsd:string |
| http://purl.uniprot.org/citations/37407873 | http://purl.uniprot.org/core/volume | "43"xsd:string |
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