Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms Alymphoid cystic thymic dysgenesis Ciężki Niedobór odporności T-komórkowej - łysienie wrodzone - dystrofia paznokci Niedobór skrzydlatej helisy Nude/SCID Nude/severe combined immunodeficiency SCID due to FOXN1 deficiency Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome Winged helix deficiency ORPHA code 169095 OMIM code 601705 ICD10 code D82.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl