Severe combined immunodeficiency due to FOXN1 deficiency
What is Severe combined immunodeficiency due to FOXN1 deficiency?
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.
Other condition names
Alymphoid cystic thymic dysgenesis
Nude/severe combined immunodeficiency
SCID due to FOXN1 deficiency
Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome