Genetic and molecular definition of complementation group D in MHC class II deficiency

Marie Claude Fondaneche, Jean Villard, Wojciech Wiszniewski, Emmanuelle Jouanguy, Amos Etzioni, Françoise Le Deist, Ad Peijnenburg, Jean Laurent Casanova, Walter Reith, Bernard Mach, Alain Fischer, Barbara Lisowska-Grospierre

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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, RFXAF, 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.

Original languageEnglish (US)
Pages (from-to)879-885
Number of pages7
JournalHuman molecular genetics
Issue number5
StatePublished - May 1998
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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