ID   KEN
AC   CVCL_B7MB
DR   Wikidata; Q112929948
RX   PubMed=7699327;
RX   PubMed=8642248;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Arg149Gln (c.446G>A); ClinVar=VCV000007648; Zygosity=Homozygous (from familial inference of KER).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C171268; Bare lymphocyte syndrome type 2
DI   ORDO; Orphanet_572; Immunodeficiency by defective expression of MHC class II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   <1Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=7699327; DOI=10.1084/jem.181.4.1411; PMCID=PMC2191976;
RA   Hauber I., Gulle H., Wolf H.M., Maris M., Eggenbauer H., Eibl M.M.;
RT   "Molecular characterization of major histocompatibility complex class
RT   II gene expression and demonstration of antigen-specific T cell
RT   response indicate a new phenotype in class II-deficient patients.";
RL   J. Exp. Med. 181:1411-1423(1995).
//
RX   PubMed=8642248; DOI=10.1084/jem.183.3.1063; PMCID=PMC2192314;
RA   Douhan J. 3rd, Hauber I., Eibl M.M., Glimcher L.H.;
RT   "Genetic evidence for a new type of major histocompatibility complex
RT   class II combined immunodeficiency characterized by a dyscoordinate
RT   regulation of HLA-D alpha and beta chains.";
RL   J. Exp. Med. 183:1063-1069(1996).
//