Preferred Name | MHC class I deficiency | |
Synonyms |
BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I |
|
Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0060009 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
alternative label |
BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I |
|
database_cross_reference |
MIM:604571 |
|
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. OMIM mapping confirmed by DO. [SN]. |
|
has exact synonym |
BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0060009 |
|
label |
MHC class I deficiency |
|
notation |
DOID:0060009 |
|
note |
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. OMIM mapping confirmed by DO. [SN]. |
|
preferred label |
MHC class I deficiency |
|
prefLabel |
MHC class I deficiency |
|
subClassOf |