Search Ontology:
Human Disease
MHC class II deficiency
- Term ID
- DOID:5812
- Synonyms
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- bare lymphocyte syndrome type II
- BLSII
- SCID due to absent class II HLA antigens
- 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. (2)
- References
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- ICD10CM:D81.6
- MESH:D016511
- MIM:209920
- NCI:C3895
- SNOMEDCT_US_2023_03_01:71904008
- UMLS_CUI:C0242583
- Ontology
- Human Disease ( DOID:5812 )
- is a type of
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