OBO ID: DOID:5812
Term Name: MHC class II deficiency Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   ( DOID:5812 )
Relationships
is a type of:
OTHER MHC class II deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CIITA Bare lymphocyte syndrome, type II, complementation group A 209920
RFX5 Bare lymphocyte syndrome, type II, complementation group E 209920
Bare lymphocyte syndrome, type II, complementation group C 209920
RFXANK Bare lymphocyte syndrome, type II, complementation group B 209920
RFXAP Bare lymphocyte syndrome, type II, complementation group D 209920
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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