ID   BLS-1
AC   CVCL_9W20
SY   BLS1
DR   Wikidata; Q54797418
RX   PubMed=1538137;
RX   PubMed=1852002;
RX   PubMed=2511169;
RX   PubMed=2785516;
RX   PubMed=7615790;
RX   PubMed=8195723;
RX   PubMed=9806546;
CC   Sequence variation: Mutation; HGNC; HGNC:9987; RFXANK; Unexplicit; 58-bp deletion that removes the last 23-bp and the splice donor site of exon 6; ClinVar=VCV000006598; Zygosity=Homozygous (PubMed=9806546).
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: 23-02-16; Last updated: 19-12-24; Version: 9
//
RX   PubMed=1538137; DOI=10.4049/jimmunol.148.5.1576;
RA   Seidl C., Saraiya C., Osterweil Z., Fu Y.P., Lee J.S.;
RT   "Genetic complexity of regulatory mutants defective for HLA class II
RT   gene expression.";
RL   J. Immunol. 148:1576-1584(1992).
//
RX   PubMed=1852002; DOI=10.1073/pnas.88.10.4285; PMCID=PMC51643;
RA   Benichou B., Strominger J.L.;
RT   "Class II-antigen-negative patient and mutant B-cell lines represent
RT   at least three, and probably four, distinct genetic defects defined by
RT   complementation analysis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 88:4285-4288(1991).
//
RX   PubMed=2511169; DOI=10.1016/0198-8859(89)90007-4;
RA   Hume C.R., Lee J.S.;
RT   "Congenital immunodeficiencies associated with absence of HLA class II
RT   antigens on lymphocytes result from distinct mutations in trans-acting
RT   factors.";
RL   Hum. Immunol. 26:288-309(1989).
//
RX   PubMed=2785516; DOI=10.1016/0198-8859(89)90065-7;
RA   Hume C.R., Shookster L.A., Collins N.H., O'Reilly R.J., Lee J.S.;
RT   "Bare lymphocyte syndrome: altered HLA class II expression in B cell
RT   lines derived from two patients.";
RL   Hum. Immunol. 25:1-11(1989).
//
RX   PubMed=7615790; DOI=10.1172/JCI118023; PMCID=PMC185191;
RA   Kovats S., Nepom G.T., Coleman M., Nepom B., Kwok W.W., Blum J.S.;
RT   "Deficient antigen-presenting cell function in multiple genetic
RT   complementation groups of type II bare lymphocyte syndrome.";
RL   J. Clin. Invest. 96:217-223(1995).
//
RX   PubMed=8195723; DOI=10.1084/jem.179.6.2017; PMCID=PMC2191518;
RA   Kovats S., Drover S., Marshall W.H., Freed D., Whiteley P.E.,
RA   Nepom G.T., Blum J.S.;
RT   "Coordinate defects in human histocompatibility leukocyte antigen
RT   class II expression and antigen presentation in bare lymphocyte
RT   syndrome.";
RL   J. Exp. Med. 179:2017-2022(1994).
//
RX   PubMed=9806546; DOI=10.1038/3081;
RA   Masternak K., Barras E., Zufferey M., Conrad B., Corthals G.L.,
RA   Aebersold R., Sanchez J.-C., Hochstrasser D.F., Mach B., Reith W.;
RT   "A gene encoding a novel RFX-associated transactivator is mutated in
RT   the majority of MHC class II deficiency patients.";
RL   Nat. Genet. 20:273-277(1998).
//