• Mutation; HGNC; HGNC:9987; RFXANK; Unexplicit; 58-bp deletion that removes the last 23-bp and the splice donor site of exon 6; ClinVar=VCV000006598; Zygosity=Homozygous (PubMed=9806546).
  

PubMed=2511169; DOI=10.1016/0198-8859(89)90007-4
Hume C.R., Lee J.S.
Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors.
Hum. Immunol. 26:288-309(1989)

PubMed=2785516; DOI=10.1016/0198-8859(89)90065-7
Hume C.R., Shookster L.A., Collins N.H., O'Reilly R.J., Lee J.S.
Bare lymphocyte syndrome: altered HLA class II expression in B cell lines derived from two patients.
Hum. Immunol. 25:1-11(1989)

PubMed=1852002; DOI=10.1073/pnas.88.10.4285; PMCID=PMC51643
Benichou B., Strominger J.L.
Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis.
Proc. Natl. Acad. Sci. U.S.A. 88:4285-4288(1991)

PubMed=1538137; DOI=10.4049/jimmunol.148.5.1576
Seidl C., Saraiya C., Osterweil Z., Fu Y.P., Lee J.S.
Genetic complexity of regulatory mutants defective for HLA class II gene expression.
J. Immunol. 148:1576-1584(1992)

PubMed=8195723; DOI=10.1084/jem.179.6.2017; PMCID=PMC2191518
Kovats S., Drover S., Marshall W.H., Freed D., Whiteley P.E., Nepom G.T., Blum J.S.
Coordinate defects in human histocompatibility leukocyte antigen class II expression and antigen presentation in bare lymphocyte syndrome.
J. Exp. Med. 179:2017-2022(1994)

PubMed=7615790; DOI=10.1172/JCI118023; PMCID=PMC185191
Kovats S., Nepom G.T., Coleman M., Nepom B., Kwok W.W., Blum J.S.
Deficient antigen-presenting cell function in multiple genetic complementation groups of type II bare lymphocyte syndrome.
J. Clin. Invest. 96:217-223(1995)

PubMed=9806546; DOI=10.1038/3081
Masternak K., Barras E., Zufferey M., Conrad B., Corthals G.L., Aebersold R., Sanchez J.-C., Hochstrasser D.F., Mach B., Reith W.
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.
Nat. Genet. 20:273-277(1998)