| Metadata | |
|---|---|
| ID | DOID:5812 |
| Name | MHC class II deficiency |
| 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. https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii, https://www.omim.org/entry/209920 |
| Xrefs |
SNOMEDCT_US_2023_03_01:71904008 |
| Subsets |
NCIthesaurus |
| Synonyms |
bare lymphocyte syndrome type II [EXACT] BLSII [EXACT] SCID due to absent class II HLA antigens [EXACT] |
| Parent Relationships |