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Alymphoid cystic thymic dysgenesis

Disease definition

A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.

ORPHA:169095

Classification level: Disorder
  • Synonym(s):
    • FOXN1 deficiency
    • Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
    • Winged helix deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D82.8
  • OMIM: 601705
  • UMLS: -
  • MeSH: -
  • GARD: 4358
  • MedDRA: -

Detailed information

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