MHC class II deficiency

Term ID

DOID:5812

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

• ICD10CM:D81.6
• MESH:D016511
• NCI:C3895
• OMIM:209920
• SNOMEDCT_US_2023_03_01:71904008
• UMLS_CUI:C0242583

Ontology

Human Disease   ( DOID:5812 )