| Metadata | |
|---|---|
| ID | DOID:0060009 |
| Name | MHC 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. https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/25001848 |
| Xrefs | |
| Synonyms |
bare lymphocyte syndrome type I [EXACT] BLS, TYPE I [EXACT] BLSI [EXACT] HLA CLASS I DEFICIENCY [EXACT] |
| Parent Relationships |