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References OMIM Gene GeneReviews HGMD HGNC
last update : 3/07/2006
Symbol BLS1B
Location 6p21.3
Name bare lymphocyte syndrome type IB
Corresponding gene TAP1
Main clinical features
  • characterized by chronic bacterial colonization of the respiratory tract and skin lesions . associated with a defect of MHC1 expression at the cell surface and a secundary defect of ABCB3 (TAP2)
  • Genetic determination multigenic
    Function/system disorder defense and immunity
    Type susceptibility factor
    Gene product
    Name MHC-linked transporter protein 1