Human Molecular Genetics, Vol 7, 879-885, Copyright © 1998 by Oxford University Press
MC Fondaneche, J Villard, W Wiszniewski, E Jouanguy, A Etzioni, F Le Deist, A Peijnenburg, JL Casanova, W Reith, B Mach, A Fischer and B Lisowska- Grospierre
Four complementation groups, A, B, C and D, have been described among cell
lines defective in the coordinate expression of MHC class II genes. These
include cell lines established from patients affected with MHC class II
deficiency and experimentally generated mutant cell lines. Group D, in
contrast to the other groups, was for a long time represented only by the
6.1.6 mutant cell line. The gene responsible for the defect in this group,
RFXAP , recently was cloned and found to be mutated in the 6.1.6 cell line
and in three patients. Here we report fusion experiments in several new HLA
class II-deficient patients, completing the classification of the majority
of known patients into the four complementation groups. Patients from five
unrelated families were classified in complementation group D, while nine
others fall into complementation groups A and B. None of the patients
defined a new complementation group. Full correction of MHC class II
expression was obtained in cells from patients belonging to group D by
transfection with the RFXAP cDNA. The RFXAP coding region was found to be
mutated in all patients. Mutations were found to be recurrent since only
three different mutations have been found in the eight unrelated families
reported to date.
ARTICLES
Genetic and molecular definition of complementation group D in MHC class II deficiency
INSERM U429, Hopital Necker-Enfants Malades, 149 rue de Sevres, 15015 Paris, France. Geneva, Switzerland, Department of Pediatrics,
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