loading...| Preferred Name | MHC class I deficiency | |
| Synonyms |
BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I |
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| 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]. |
|
| database_cross_reference |
OMIM: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 |
|
| IAO_0000115 |
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. |
|
| 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]. |
|
| prefLabel |
MHC class I deficiency |
|
| subClassOf |