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Severe combined immunodeficiency due to FOXN1 deficiency
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):
- Alymphoid cystic thymic dysgenesis
- Nude/SCID
- Nude/severe combined immunodeficiency
- SCID due to FOXN1 deficiency
- Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
- Winged helix deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive or Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: D82.8
- OMIM: 601705 618806
- UMLS: -
- MeSH: -
- GARD: 4358
- MedDRA: -
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