MHC class I deficiency (DOID:0060009)
Alliance: disease page
Synonyms: bare lymphocyte syndrome type I; BLS, TYPE I; BLSI; HLA CLASS I DEFICIENCY
Alt IDs: OMIM:604571
Definition: A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.