bare lymphocyte syndrome type-1 (BLS type 1)

Pathology

• absence of HLA antigens on peripheral mononuclear cells, which may result in immunodeficiency
• not accompanied by particular pathologic manifestations during the first years of life (contrast with BLS type-2,3)
• chronic lung disease develops in late childhood
• pathology of the gut (diarrhea) is not observed (contrast with BLS type-2,3)
• systemic infections have not been described in HLA class 1- deficient patients
• chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract & extend from the upper to the lower airway
• bronchiectasis, emphysema, panbronchiolitis, & bronchial obstruction have been described

Genetics

• associated with defects in TAP1 or TAP2 gene

More general terms

• bare lymphocyte syndrome

Database

• OMIM: https://mirror.omim.org/entry/604571