|
General Information
|
| Term |
MHC class I deficiency |
ID (Ontology) |
DOID:0060009 (Human Disease) |
| 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. |
| Also Known As |
"bare lymphocyte syndrome type I" ; "BLS, TYPE I" ; "BLSI" (for all, see Synonyms field below) |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
MHC class I deficiency | 2 | for disease ribbon | MHC class I deficiency | 2 | model of | MHC class I deficiency | 2 |
|
Relationships