• Mutation; HGNC; HGNC:9987; RFXANK; Simple; c.338-25_338del (752delG26bp) (752delG-25) (26-BP DEL, NT752) (I5E6-25_I5E6+1); ClinVar=VCV001435455; Zygosity=Homozygous (PubMed=9806546; PubMed=10072068).
  

PubMed=3133120; DOI=10.1016/S0092-8674(88)90389-3
Reith W., Satola S.W., Herrero Sanchez C., Amaldi I., Lisowska-Grospierre B., Griscelli C., Hadam M.R., Mach B.
Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X.
Cell 53:897-906(1988)

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=7951244; DOI=10.1093/hmg/3.6.953
Lisowska-Grospierre B., Fondaneche M.-C., Rols M.-P., Griscelli C., Fischer A.
Two complementation groups account for most cases of inherited MHC class II deficiency.
Hum. Mol. Genet. 3:953-958(1994)

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)

PubMed=10072068; DOI=10.1016/S1074-7613(00)80016-3
Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J.M.
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.
Immunity 10:153-162(1999)