ORPHA:83471
T-cell immunodeficiency with thymic aplasia
Also called Isolated aplasia/hypoplasia of the thymus, Isolated congenital athymia, Isolated congenital thymic aplasia/hypoplasia, Isolated thymic defect due to thymic aplasia/hypoplasia, Nezelof syndrome
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:83471 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Decreased total T cell count
- Decreased lymphocyte proliferation in response to mitogen
- Reduced proportion of naive T cells
- Recurrent infections
- Severe T-cell immunodeficiency
- Cellular immunodeficiency