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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
General
bare lymphocyte syndrome
Database Correlations
OMIM 604571
References
OMIM :accession 604571