Combined immunodeficiency due to FOXN1 haploinsufficiency
ORPHA:676039· ICD-10 D81.8
Definition
A rare non-severe combined immunodeficiency characterized by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypolasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal