ID   VIP2
AC   CVCL_B7KA
DR   Wikidata; Q112930544
RX   PubMed=20197681;
CC   Population: Caucasian; Austrian.
CC   Sequence variation: Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Ser123Thrfs*15 (c.368delG) (484delG); ClinVar=VCV000007651; Zygosity=Homozygous (PubMed=20197681).
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   Children
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=20197681; DOI=10.1159/000288292;
RA   Schmetterer K.G., Seidel M.G., Kormoczi U., Rottal A., Schwarz K.,
RA   Matthes-Martin S., Steinberger P., Pickl W.F.;
RT   "Two newly diagnosed HLA class II-deficient patients identified by
RT   rapid vector-based complementation analysis reveal discoordinate
RT   invariant chain expression levels.";
RL   Int. Arch. Allergy Immunol. 152:390-400(2010).
//