GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
MHC Class II Deficiency  
Disease Aliases (33)

Bare lymphocyte syndrome

Bare lymphocyte syndrome, type ii, complementation group a

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

Bare lymphocyte syndrome, type ii

Bare lymphocyte syndrome, type ii, complementation group b, included

Bare lymphocyte syndrome, type ii, complementation group c, included

Bare lymphocyte syndrome, type ii, complementation group d, included

Bare lymphocyte syndrome, type ii, complementation group e, included

Bls

Bls 2

Bls type ii

Bls, type ii

Blsii

Bare lymphocyte syndrome 2

Bare lymphocyte syndrome type 2

Bare lymphocyte syndrome, type 2

Bls, type 2

Hla class 2-negative scid

Hla class 2-negative severe combined immunodeficiency

Mhc class ii deficiency

Mhc class ii expression deficiency

Scid due to absent class ii hla antigens

Scid, hla class ii-negative

Scid, hla class ii-negative bare lymphocyte syndrome, type ii, complementation group a, included

Scid, hla class 2-negative

Severe combined immunodeficiency, hla class ii-negative

Bare lymphocyte syndrome type ii

Immunodeficiency by defective expression of hla class 2

Immunodeficiency by defective expression of hla class type 2

Major histocompatibility complex class ii expression deficiency

Associated Genes (4)
 

NCBI-RefSeq:  RFXAP   (Regulatory factor X associated protein)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RFXANK   (Regulatory factor X associated ankyrin containing protein)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CIITA   (Class II major histocompatibility complex transactivator)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RFX5   (Regulatory factor X5)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of MHC class II deficiency OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations