TAP2 deficiency

Contrary to type II and type III Bare lymphocyte syndrome, which are characterized by the early onset of Severe Combined Immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life, although chronic lung disease develops in late childhood. Also in contrast to type II or type III BLS, pathology of the gut (diarrhea) is not observed. Systemic infections have not been described in HLA class I-deficient patients. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract and extend from the upper to the lower airway. Bronchiectasis, emphysema, panbronchiolitis, and bronchial obstruction have been described.


Diagnostic recommendations

Additional Information

Diagnostic laboratories