• Mutation; HGNC; HGNC:7067; CIITA; Simple; c.2888+1G>A (c.72bpdel2932-3003) (IVS13DS,G-A,+1) (p.Thr940_Ala963del); ClinVar=VCV000501277; Zygosity=Homozygous (PubMed=8402893).
  

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=8402893; DOI=10.1016/S0092-8674(05)80090-X
Steimle V., Otten L.A., Zufferey M., Mach B.
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).
Cell 75:135-146(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)