• 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=1852002; DOI=10.1073/pnas.88.10.4285; PMCID=PMC51643
Bernard Benichou, Jack Leonard Strominger;
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
Christian Seidl, Chitra Saraiya, Zvi Osterweil, Y. Ping Fu, Janet S. Lee;
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
Barbara Lisowska-Grospierre, Marie-Claude Fondaneche, Marie-Pierre Rols, Claude Griscelli, Alain Fischer;
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
Krzysztof Masternak, Emmanuele Barras, Madeleine Zufferey, Bernard Conrad, Garry L. Corthals, Ruedi Aebersold, Jean-Charles Sanchez, Denis Francois Hochstrasser, Bernard Mach, Walter Reith;
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
Uma M. Nagarajan, Pascale Louis-Plence, Angela DeSandro, Roger Nilsen, Alyssa Bushey, Jeremy M. Boss;
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)