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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-10-2019
Symbol WHN
Location 17q11.2
Name NUDE phenotype
Other name(s)
  • winged helix nude
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • Corresponding gene FOXN1
    Main clinical features
  • characterized by alopecia with complete absence of scalp hair eyebrows and eyelashes, dystrophic nails and thymus aplasia with T-cell immunodeficiency
  • complete athymia, congenital alopecia, and nail dystrophy
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    defense and immunity
    Type disease
  • homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus
  • FOXN1 haploinsufficiency causes low T cell receptor excision circles (TRECs) and T cell lymphopenia at birth that progressively improves with age (PMID: 31447097))
  • FOXN1 compound heterozygous mutations cause selective thymic hypoplasia (PMID: 31566583))