OBO ID: DOID:0060009
Term Name: MHC class I deficiency Search Ontology:
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:
OTHER MHC class I deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TAP1 Bare lymphocyte syndrome, type I 604571
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571
TAPBP Bare lymphocyte syndrome, type I 604571
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None