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MHC class I deficiency
Summary
- Synonym
-
- BLS, TYPE I
- BLSI
- HLA CLASS I DEFICIENCY
- bare lymphocyte syndrome type I
- 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.
- Super Class
- severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0060009
- Mondo Disease Ontology
- OMIM
