Thus, the present chapter will focus on the information that came out from the original description of the human Nude/SCID phenotype and on the role of FOXN1 and of the other members of FOX subfamilies in those immunological disorders characterized by abnormal T-cell development or abnormal T-cell regulatory homeostasis.
The transcription factor FOXN1 is implicated in the differentiation of thymic and skin epithelial cells, and alterations in it are responsible for the Nude/SCID phenotype.
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.
Both patients had a presentation consistent with T-/loB+NK+ SCID, with normal hair and nails, distinct from the classic nude/SCID phenotype in individuals with autosomal-recessive FOXN1 mutations.
Severe combined immunodeficiency (SCID) is an extremely rare disease caused by a disruption in the forkhead box N1 (<i>FOXN1</i>) gene, with an incidence of <1 per 1 000 000 live births.
Alterations of the FOXN1 gene in both mice and humans result in a severe combined immunodeficiency caused by an intrinsic defect of the thymus associated with congenital alopecia (Nude/severe combined immunodeficiency phenotype).
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.