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DOID:5812 - MHC class II deficiency
Disease Ontology Definition:A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
Synonyms: BLSII, SCID due to absent class II HLA antigens, SCID due to absent class II HLA antigens (disorder), bare lymphocyte syndrome type II,
Xenbase Genes
:
ciita,
rfxap,
rfxank,
rfx5
| MONDO:0008855 - MHC class II deficiency |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
severe combined immunodeficiency (is_a)