Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:MHC class II deficiency
go back to main search page
Accession:DOID:5812 term browser browse the term
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. (DO)
Synonyms:exact_synonym: BLS;   BLS Type II;   BLSII;   Bare Lymphocyte Syndrome Type 2, Complementation Group A;   Bare Lymphocyte Syndrome Type 2, Complementation Group E;   Bare Lymphocyte Syndrome, Type II, Complementation Group A;   Bare lymphocyte syndrome type 2;   SCID due to absent class II HLA antigens;   SCID, HLA class 2-negative;   SCID, HLA class II-negative;   bare lymphocyte syndrome 2;   bare lymphocyte syndrome type II;   severe combined immunodeficiency, HLA class II-negative
 narrow_synonym: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E
 primary_id: MESH:C537079;   MESH:C565910
 alt_id: OMIM:209920;   RDO:0002851;   RDO:0014424;   RDO:9002914
 xref: ICD10CM:D81.6;   NCI:C171268;   NCI:C3895
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
MHC class II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciita class II, major histocompatibility complex, transactivator severity ISO DNA:nonsense mutation:CDS:c.1256G>T, p.E381X (allele 1); DNA:splice-site mutation/deletion:CDS:p.D1078E/c.3349_3432del, p.1079_1106del (allele 2) (human)
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II
DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells (human)
ClinVar
OMIM
PMID:8402893, PMID:9099848, PMID:11704716, PMID:11862382, PMID:15897313, PMID:24033266, PMID:24044430, PMID:25741868, PMID:26271388, PMID:27484032, PMID:28492532, PMID:9099848, PMID:11466404 RGD:1600188, RGD:5491200 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: MHC Class II Deficiency ClinVar PMID:28492532 NCBI chr16:21,036,648...21,039,481
Ensembl chr16:21,036,646...21,038,844
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group E
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c
ClinVar
OMIM
PMID:7744245, PMID:9401005, PMID:10079298, PMID:12368908, PMID:24033266, PMID:26193622, PMID:28492532 NCBI chr 2:196,119,054...196,128,109
Ensembl chr 2:196,120,580...196,128,095
JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: MHC Class II Deficiency
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group b
ClinVar
OMIM
PMID:7951244, PMID:9806546, PMID:10803838, PMID:11313409, PMID:12618906, PMID:24033266, PMID:25741868, PMID:27980538, PMID:28492532 NCBI chr16:21,029,449...21,037,080
Ensembl chr16:21,029,596...21,037,078
JBrowse link
G Rfxap regulatory factor X-associated protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, HLA class ii-negative
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar
OMIM
PMID:650344, PMID:7021490, PMID:9118943, PMID:9287230, PMID:12498778, PMID:28492532 NCBI chr 2:144,003,453...144,007,636
Ensembl chr 2:144,003,454...144,007,636
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      primary immunodeficiency disease 2348
        combined immunodeficiency 148
          severe combined immunodeficiency 91
            MHC class II deficiency 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            combined immunodeficiency 148
              severe combined immunodeficiency 91
                MHC class II deficiency 5
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.