• Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Ser78Argfs*7 (c.234delCTCAG); Zygosity=Homozygous (PubMed=7744245).
  

PubMed=2299498; DOI=10.1016/S0022-3476(05)82885-9
Casper J.T., Ash R.A., Kirchner P., Hunter J.B., Havens P.L., Chusid M.J.
Successful treatment with an unrelated-donor bone marrow transplant in an HLA-deficient patient with severe combined immune deficiency ('bare lymphocyte syndrome').
J. Pediatr. 116:262-265(1990)

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=8106283; DOI=10.1016/0198-8859(93)90547-E
Nocera A., Barocci S., De Palma R., Gorski J.
Analysis of transcripts of genes located within the HLA-D region in B cells from an HLA-severe combined immunodeficiency individual.
Hum. Immunol. 38:231-234(1993)

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=7744245; DOI=10.1101/gad.9.9.1021
Steimle V., Durand B., Barras E., Zufferey M., Hadam M.R., Mach B., Reith W.
A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).
Genes Dev. 9:1021-1032(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)