ID   BLS-2
AC   CVCL_9W21
SY   BLS2
DR   Wikidata; Q54797425
RX   PubMed=1538137;
RX   PubMed=1852002;
RX   PubMed=2511169;
RX   PubMed=2785516;
RX   PubMed=7615790;
RX   PubMed=8402893;
CC   Sequence variation: Mutation; HGNC; HGNC:7067; CIITA; Simple; c.2888+1G>A (c.72bpdel2932-3003) (IVS13DS,G-A,+1) (p.Thr940_Ala963del); ClinVar=VCV000501277; Zygosity=Homozygous (PubMed=8402893).
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   Female
AG   3-4Y
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=8402893; DOI=10.1016/S0092-8674(05)80090-X;
RA   Steimle V., Otten L.A., Zufferey M., Mach B.;
RT   "Complementation cloning of an MHC class II transactivator mutated in
RT   hereditary MHC class II deficiency (or bare lymphocyte syndrome).";
RL   Cell 75:135-146(1993).
//