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Genetic and molecular definition of complementation group D in MHC class II deficiency. 1998

M C Fondaneche, and J Villard, and W Wiszniewski, and E Jouanguy, and A Etzioni, and F Le Deist, and A Peijnenburg, and J L Casanova, and W Reith, and B Mach, and A Fischer, and B Lisowska-Grospierre
INSERM U429, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 15015 Paris, France. Geneva, Switzerland, Department of Pediatrics,

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.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D004268 DNA-Binding Proteins Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases. DNA Helix Destabilizing Proteins,DNA-Binding Protein,Single-Stranded DNA Binding Proteins,DNA Binding Protein,DNA Single-Stranded Binding Protein,SS DNA BP,Single-Stranded DNA-Binding Protein,Binding Protein, DNA,DNA Binding Proteins,DNA Single Stranded Binding Protein,DNA-Binding Protein, Single-Stranded,Protein, DNA-Binding,Single Stranded DNA Binding Protein,Single Stranded DNA Binding Proteins
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D005802 Genes, MHC Class II Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and include H-2M, I-A, and I-E loci in mice. Class II Genes,Genes, Class II,Genes, HLA Class II,MHC Class II Genes,Class II Gene,Gene, Class II
D005816 Genetic Complementation Test A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell. Allelism Test,Cis Test,Cis-Trans Test,Complementation Test,Trans Test,Allelism Tests,Cis Tests,Cis Trans Test,Cis-Trans Tests,Complementation Test, Genetic,Complementation Tests,Complementation Tests, Genetic,Genetic Complementation Tests,Trans Tests
D006681 HLA-D Antigens Human immune-response or Class II antigens found mainly, but not exclusively, on B-lymphocytes and produced from genes of the HLA-D locus. They are extremely polymorphic families of glycopeptides, each consisting of two chains, alpha and beta. This group of antigens includes the -DR, -DQ and -DP designations, of which HLA-DR is most studied; some of these glycoproteins are associated with certain diseases, possibly of immune etiology. Antigens, HLA-D,Class II Human Antigens,HLA-Dw Antigens,Human Class II Antigens,Ia-Like Antigens, Human,Immune Response-Associated Antigens, Human,Immune-Associated Antigens, Human,Immune-Response Antigens, Human,HLA-D,HLA-Dw,Immune Response Associated Antigens, Human,Antigens, HLA D,Antigens, HLA-Dw,Antigens, Human Ia-Like,Antigens, Human Immune-Associated,Antigens, Human Immune-Response,HLA D Antigens,HLA Dw Antigens,Human Ia-Like Antigens,Human Immune-Associated Antigens,Human Immune-Response Antigens,Ia Like Antigens, Human,Immune Associated Antigens, Human,Immune Response Antigens, Human
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071701 Regulatory Factor X Transcription Factors A family of eukaryotic transcription factors that recognize and bind to a highly-conserved cis-regulatory sequence (X-box) within the promoter region of MHC CLASS II GENES. They contain a conserved winged-helix DNA binding domain and function as homo or heterodimers. RFX Transcription Factors,Factors, RFX Transcription,Transcription Factors, RFX
D000944 Antigens, Differentiation, B-Lymphocyte Membrane antigens associated with maturation stages of B-lymphocytes, often expressed in tumors of B-cell origin. Antigens, Differentiation, B-Cell,B-Cell Differentiation Antigens,B-Lymphocyte Differentiation Antigens,Blast-2 Antigen, B-Cell,Differentiation Antigens, B-Cell,Differentiation Antigens, B-Lymphocyte,Leu Antigens, B-Lymphocyte,Plasma Cell Antigens PC-1,Antigens, Differentiation, B Lymphocyte,Antigens, Plasma Cell, PC-1,B-Cell Blast-2 Antigen,Antigen, B-Cell Blast-2,Antigens, B-Cell Differentiation,Antigens, B-Lymphocyte Differentiation,Antigens, B-Lymphocyte Leu,B Cell Blast 2 Antigen,B Cell Differentiation Antigens,B Lymphocyte Differentiation Antigens,B-Lymphocyte Leu Antigens,Blast 2 Antigen, B Cell,Differentiation Antigens, B Cell,Differentiation Antigens, B Lymphocyte,Leu Antigens, B Lymphocyte,Plasma Cell Antigens PC 1

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