Winged Helix Deficiency (FOXN1)
FOXN1 encodes a transcription factor that is essential for the development of thymus and eccrine glands (Bonilla and Notarangelo 2015). This gene is a member of the forkhead gene family, which consists of a group of “winged helix” transcription factors that are involved in many aspects of cell development, metabolism, and aging (Palamaro et al. 2014). In fetal life, FOXN1 is expressed in mesenchymal and epithelial cells in the liver, lung, intestine, kidney, and urinary tract (Gallo et al. 2017). Postnatally, the gene is selectively expressed in thymic and skin epithelial cells (Palamaro et al. 2014).
The thymus is a primary lymphoid organ responsible for production of a diverse repertoire of immunocompetent T cells. FOXN1 is expressed in all thymic epithelial cells, which secrete...
- Bonilla F, Notarangelo L. Nathan and Oski’s hematology and oncology of infancy and childhood. 8th ed. Philadelphia: Elsevier; 2015.Google Scholar