Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060009 )
Relationships
is a type of
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Genes Involved
Zebrafish Models