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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

OMIM:604571

Synonyms

bare lymphocyte syndrome type I [EXACT]

BLS, TYPE I [EXACT]

BLSI [EXACT]

HLA CLASS I DEFICIENCY [EXACT]

Parent Relationships

is_a severe combined immunodeficiency

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