Article
Comprehensive phenotypic analysis of diverse FOXN1 variants.
The Journal of allergy and clinical immunology - 1 Nov 2023
Moses Angela, Bhalla Pratibha, Thompson Austin, Lai Laijun, Coskun Fatma S, Seroogy Christine M, de la Morena Maria Teresa, Wysocki Christian A, van Oers Nicolai S C
Abstract excerpt
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...
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