Publications by authors named "N S van Oers"
Article Synopsis
- Pathogenic variants in a specific transcription factor are linked to syndromes like EEC and AEC, and this case report presents an infant with severe T cell lymphopenia, detected during newborn screening.
- Flow cytometry revealed low levels of CD4+ and almost no CD8+ T cells, while the B and NK cell levels were normal; further genetic analysis identified a particular variant in the transcription factor.
- Using an artificial thymic organoid system, researchers found that T cell differentiation occurred, implying a thymic defect, leading to the patient receiving an allogenic cultured thymus tissue implant, which showed promising signs of T cell development after 9 months.
Background: Thymus hypoplasia due to stromal cell problems has been linked to mutations in several transcription factors, including Forkhead box N1 (FOXN1). FOXN1 supports T-cell development by regulating the formation and expansion of thymic epithelial cells (TECs). While autosomal recessive FOXN1 mutations result in a nude and severe combined immunodeficiency phenotype, the impact of single-allelic or compound heterozygous FOXN1 mutations is less well-defined.
View Article and Find Full Text PDF22q11.2 deletion syndrome (22q11.2DS) is the most common human chromosomal microdeletion, causing developmentally linked congenital malformations, thymic hypoplasia, hypoparathyroidism, and/or cardiac defects.
View Article and Find Full Text PDFThe thymus, a primary lymphoid organ, produces the T cells of the immune system. Originating from the 3 pharyngeal pouch during embryogenesis, this organ functions throughout life. Yet, thymopoiesis can be transiently or permanently damaged contingent on the types of systemic stresses encountered.
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