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Alterations of the <jats:italic>FOXN1<\/jats:italic> 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). FOXN1 is a member of the class of proteins involved in the development and differentiation of the central nervous system. We identified a human fetus homozygous for a mutation in <jats:italic>FOXN1<\/jats:italic> gene who lacked the thymus and also had abnormal skin, anencephaly and spina bifida. Moreover, we found that <jats:italic>FOXN1<\/jats:italic> gene is expressed in mouse developing choroid plexus. 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