ID   BCH
AC   CVCL_B7K8
DR   Wikidata; Q112929281
RX   PubMed=1852002;
RX   PubMed=1864634;
RX   PubMed=9099848;
CC   Population: Caucasian; Austrian.
CC   Sequence variation: Mutation; HGNC; HGNC:7067; CIITA; Simple; p.Glu381Ter (c.1141G>T) (G1256T); ClinVar=VCV000009541; Zygosity=Heterozygous (PubMed=9099848).
CC   Sequence variation: Mutation; HGNC; HGNC:7067; CIITA; Simple; c.3317+1G>A (IVS18DS,G-A,+1) (del3349-3432); ClinVar=VCV000009542; Zygosity=Heterozygous (PubMed=9099848).
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: 5
//
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=1864634; DOI=10.3109/08820139109050783;
RA   Mannhalter J.W., Wolf H.M., Gadner H., Potschka M., Eibl M.M.;
RT   "Cell-mediated immune functions in a patient with MHC class II
RT   deficiency.";
RL   Immunol. Invest. 20:151-167(1991).
//
RX   PubMed=9099848; DOI=10.1007/s004390050403;
RA   Bontron S., Steimle V., Ucla C., Eibl M.M., Mach B.;
RT   "Two novel mutations in the MHC class II transactivator CIITA in a
RT   second patient from MHC class II deficiency complementation group
RT   A.";
RL   Hum. Genet. 99:541-546(1997).
//