Term Name: | MHC class I deficiency |
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Synonyms: | bare lymphocyte syndrome type I, BLS, TYPE I, BLSI, HLA CLASS I DEFICIENCY |
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. |
Ontology: | Human Disease [DOID:0060009] ( DOID:0060009 ) |