1. Two complementation groups account for most cases of inherited MHC class II deficiency.
- Author
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Lisowska-Grospierre B, Fondaneche MC, Rols MP, Griscelli C, and Fischer A
- Subjects
- Africa, Northern ethnology, B-Lymphocytes immunology, Cell Fusion, Cell Line, Cells, Cultured, Child, Fibroblasts immunology, Fluorescent Antibody Technique, France, Gene Expression, Genes, Recessive, Genetic Complementation Test, HLA-DQ Antigens biosynthesis, HLA-DQ Antigens genetics, HLA-DR Antigens biosynthesis, HLA-DR Antigens genetics, Humans, Immunologic Deficiency Syndromes immunology, Interferon-gamma biosynthesis, Spain ethnology, Genes, MHC Class II, HLA-D Antigens genetics, Immunologic Deficiency Syndromes genetics
- Abstract
MHC class II immuno-deficiency is a rare autosomal recessive disease due to a defect in transacting genes, which control the expression of the entire family of MHC alpha and beta class II genes. Previous analyses classified cells from eight MHC class II-deficient patients and four experimental mutant cell lines into four complementation groups, pointing to the existence of a large number of regulatory genes. We conducted fusion experiments with cell lines from two-thirds of all known patients and found that two complementation groups accounted for 20 of the 22 cases studied. These two complementation groups correspond closely to two ethnic groups: most patients of north African origin were classified into one group, while all patients originating from Spain were classified into a second main group. This suggests the existence of restricted number of ancestor mutations leading to this disease.
- Published
- 1994
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