Details of Disease

General Information of Disease (ID: DISWMI0G)

• Disease Name: MHC class II deficiency
• Synonyms: BARE lymphocyte syndrome; BARE lymphocyte syndrome, type II; Bare lymphocyte syndrome type 2; BARE lymphocyte syndrome, type II, complementation group C, included; BARE lymphocyte syndrome, type II, complementation group B, included; BARE lymphocyte syndrome, type II, complementation group D, included; severe combined immunodeficiency, HLA Class II-negative; BLS type II; Bare lymphocyte syndrome 2; Bare lymphocyte syndrome, type II, complementation group B; SCID, HLA Class II-negative; Bare lymphocyte syndrome; Bare lymphocyte syndrome, type II, complementation group A; BLSII; Bare lymphocyte syndrome, type II, complementation group E; BLS; SCID, HLA Class 2-negative; Bare lymphocyte syndrome, type II, complementation group D; BLS, type II; immunodeficiency by defective expression of HLA class 2; severe combined immunodeficiency, HLA class ii-negative; Bls, type 2; BARE lymphocyte syndrome, type II, complementation group E, included; SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included; Bare lymphocyte syndrome, type II; Bare lymphocyte syndrome, type 2; BLS 2; Bare lymphocyte syndrome, type II, complementation group C; bare lymphocyte syndrome type II; major histocompatibility complex class II expression deficiency; HLA class 2-negative SCID; MHC class II deficiency, complementation group B; SCID due to absent class II HLA antigens; immunodeficiency by defective expression of HLA class type 2; MHC class II expression deficiency; HLA class 2-negative severe combined immunodeficiency
• Definition: Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.
• Disease Hierarchy:
  DIS8RTG7: Familial severe combined immunodeficiency
  DISWMI0G: MHC class II deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0008855
  MESH ID: C537079
  UMLS CUI: C2931418
  OMIM ID: 209920
  MedGen ID: 444051
  Orphanet ID: 572

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F10	TTCIHJA	moderate	Biomarker	[1]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RFX1	OTZUDMPR	moderate	Genetic Variation	[2]
ANKRA2	OTLSLV5A	Strong	Altered Expression	[3]
GPR162	OTK4LT3K	Strong	Biomarker	[4]
HLA-C	OTV38BUJ	Strong	Altered Expression	[5]
IFT80	OTMH0MBI	Strong	Genetic Variation	[6]
CIITA	OTRJNZFO	Definitive	Autosomal recessive	[7]
RFX5	OT73KJ5P	Definitive	Autosomal recessive	[7]
RFXANK	OTDX1026	Definitive	Autosomal recessive	[7]
RFXAP	OTX46DKQ	Definitive	Autosomal recessive	[7]

References

• [1] Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.Mol Cell Biol. 2000 Jun;20(12):4455-61. doi: 10.1128/MCB.20.12.4455-4461.2000.
• [2] The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes.Immunity. 1998 Oct;9(4):531-41. doi: 10.1016/s1074-7613(00)80636-6.
• [3] Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2.Immunogenetics. 2005 Feb;56(11):788-97. doi: 10.1007/s00251-004-0738-2. Epub 2005 Jan 18.
• [4] Correction of defective expression in MHC class II deficiency (bare lymphocyte syndrome) cells by retroviral transduction of CIITA.J Immunol. 1997 Aug 1;159(3):1086-95.
• [5] Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease.Tissue Antigens. 2006 Mar;67(3):183-97. doi: 10.1111/j.1399-0039.2006.00557.x.
• [6] Mutations in IFT80 cause SRPS Type IV. Report of two families and review. Am J Med Genet A. 2019 Apr;179(4):639-644. doi: 10.1002/ajmg.a.61050. Epub 2019 Feb 14.
• [7] 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.