• 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
Clifford R. Hume, Janet S. Lee;
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
Clifford R. Hume, Linda Anne Shookster, Nancy Heffner Collins, Richard J. O'Reilly, Janet S. Lee;
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
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=8195723; DOI=10.1084/jem.179.6.2017; PMCID=PMC2191518
Susan Kovats, Sheila Drover, William H. Marshall, Daniel Freed, Phyllis E. Whiteley, Gerald T. Nepom, Janice S. Blum;
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
Susan Kovats, Gerald T. Nepom, Morton Coleman, Barbara S. Nepom, William W. Kwok, Janice S. Blum;
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
Krzysztof Masternak, Emmanuele Barras, Madeleine Zufferey, Bernard Conrad, Garry L. Corthals, Rudolf 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)