Version: 8.0.0
Date: Tue Jan 28 2025
MHC class I deficiency
DOID:0060009
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

MHC 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.
Synonyms
  • bare lymphocyte syndrome type I
  • BLS, TYPE I
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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