Tapasin deficiency

Bare lymphocyte syndrome type I or class I antigen deficiencies can be caused by mutations in the TAP2, TAP1 or TAPBP. The symptoms develop in late childhood and include chronic lung disease, bronchiectasis, emphysema, panbronchiolitis, and bronchial obstruction.

Alternative names

TPSN deficiency


  • Combined B and T cell immunodeficiencies
    • Major histocompatibility complex class I deficiency


Autosomal recessive


#604571 Bare lymphocyte syndrome, type I

*601962 Tap-binding protein; TAPBP

Cross references

Phenotypically related immunodeficiencies

IDR factfile for TAP2 deficiency

IDR factfile for TAP1 deficiency


Incidence is not known.