Summary Literature (0)

DOID:0060009 - MHC class I deficiency

Disease Ontology 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.

Synonyms: BLS, TYPE I, BLSI, HLA CLASS I DEFICIENCY, bare lymphocyte syndrome type I,

Echinobase Genes :


OMIM:

MIM:604571 - bare lymphocyte syndrome, type i

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee