Human genes for MHC class I deficiency
MHC class I deficiency [DOID:0060009]
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.
Synonyms: MHC class I deficiency, DOID:0060009, MHC class I deficiencies, bare lymphocyte syndrome type I, BLSI ...
Linkouts: OMIM