ID   Nacera
AC   CVCL_B7K6
SY   NH; Na
DR   Wikidata; Q112930153
RX   PubMed=1538137;
RX   PubMed=1852002;
RX   PubMed=3133120;
RX   PubMed=7951244;
RX   PubMed=9806546;
RX   PubMed=10072068;
CC   Population: Algerian.
CC   Sequence variation: Mutation; HGNC; HGNC:9987; RFXANK; Simple; c.338-25_338del (752delG26bp) (752delG-25) (26-BP DEL, NT752) (I5E6-25_I5E6+1); ClinVar=VCV001435455; Zygosity=Homozygous (PubMed=9806546; PubMed=10072068).
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   Children
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
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=3133120; DOI=10.1016/S0092-8674(88)90389-3;
RA   Reith W., Satola S.W., Herrero Sanchez C., Amaldi I.,
RA   Lisowska-Grospierre B., Griscelli C., Hadam M.R., Mach B.;
RT   "Congenital immunodeficiency with a regulatory defect in MHC class II
RT   gene expression lacks a specific HLA-DR promoter binding protein,
RT   RF-X.";
RL   Cell 53:897-906(1988).
//
RX   PubMed=7951244; DOI=10.1093/hmg/3.6.953;
RA   Lisowska-Grospierre B., Fondaneche M.-C., Rols M.-P., Griscelli C.,
RA   Fischer A.;
RT   "Two complementation groups account for most cases of inherited MHC
RT   class II deficiency.";
RL   Hum. Mol. Genet. 3:953-958(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).
//
RX   PubMed=10072068; DOI=10.1016/S1074-7613(00)80016-3;
RA   Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A.,
RA   Boss J.M.;
RT   "RFX-B is the gene responsible for the most common cause of the bare
RT   lymphocyte syndrome, an MHC class II immunodeficiency.";
RL   Immunity 10:153-162(1999).
//