MHC class I deficiency

Term ID

DOID:0060009

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. (2)

References

• OMIM:604571

Ontology

Human Disease   ( DOID:0060009 )