Details of Disease

General Information of Disease (ID: DISSMWCT)

• Disease Name: MHC class I deficiency
• Synonyms: Bls, type 1; Bare lymphocyte syndrome, type 1; BLS type 1; BARE lymphocyte syndrome, type I; HLA Class 1 deficiency; immunodeficiency by defective expression of HLA class type 1; BLS, type I; HLA CLASS I deficiency; immunodeficiency by defective expression of HLA class 1; bare lymphocyte syndrome, type I, due to TAP2 deficiency; bare lymphocyte syndrome type I; Bare lymphocyte syndrome type 1; BLSI
• Definition: Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.
• Disease Hierarchy:
  DISKR6QJ: Combined immunodeficiency
  DISSMWCT: MHC class I deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0011476
  MESH ID: C565759
  UMLS CUI: C1858266
  OMIM ID: 604571
  MedGen ID: 346868
  Orphanet ID: 34592
  SNOMED CT ID: 725136003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
B2M	TTY7FKA	Supportive	Autosomal recessive	[1]
B2M	TTY7FKA	Strong	GermlineCausalMutation	[1]
TAP1	TT7JZI8	Strong	GermlineCausalMutation	[2]
TAP1	TT7JZI8	Definitive	Autosomal recessive	[3]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B2M	OTDWN6NX	Supportive	Autosomal recessive	[1]
TAPBP	OTL81AVZ	Moderate	Autosomal recessive	[3]
TAP2	OTWSYFI7	Strong	Autosomal recessive	[3]
TAP1	OTJL27PW	Definitive	Autosomal recessive	[3]

References

• [1] 2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system. J Allergy Clin Immunol. 2015 Aug;136(2):392-401. doi: 10.1016/j.jaci.2014.12.1937. Epub 2015 Feb 19.
• [2] Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. J Clin Invest. 1999 Mar;103(5):755-8. doi: 10.1172/JCI5335.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.