ID   DA
AC   CVCL_B7LK
DR   Wikidata; Q112929440
RX   PubMed=7021490;
RX   PubMed=9118943;
RX   PubMed=9287230;
CC   Population: Algerian.
CC   Sequence variation: Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Ser123Thrfs*15 (c.368delG) (484delG); ClinVar=VCV000007651; Zygosity=Homozygous (PubMed=9118943; PubMed=9287230).
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   1-2Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=7021490; DOI=10.1016/0198-8859(81)90061-6;
RA   Touraine J.-L., Betuel H.;
RT   "Immunodeficiency diseases and expression of HLA antigens.";
RL   Hum. Immunol. 2:147-153(1981).
//
RX   PubMed=9118943; DOI=10.1093/emboj/16.5.1045; PMCID=PMC1169704;
RA   Durand B., Sperisen P., Emery P., Barras E., Zufferey M., Mach B.,
RA   Reith W.;
RT   "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in
RT   MHC class II deficiency.";
RL   EMBO J. 16:1045-1055(1997).
//
RX   PubMed=9287230; DOI=10.1056/NEJM199709113371104;
RA   Villard J., Lisowska-Grospierre B., van den Elsen P.J., Fischer A.,
RA   Reith W., Mach B.;
RT   "Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC
RT   class II deficiency.";
RL   N. Engl. J. Med. 337:748-753(1997).
//