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© 1994 Oxford University Press

OTHER

Two complementation groups account for most cases of inherited MHC class II deficiency

Barbara Lisowska-Grospierre*,, Marie-Claude Fondaneche, Marie-Pierre Rols1, Claude Griscelli and Alain Fischer

INSERM U132, Hospital des Enfants Malades 149 rue de Sevres, 15015 Paris 1Laboratoire de Pharmacologie et de Toxicologie Fondamentales du CNRS 118 route de Narbonne, 31062 Toulouse Cedex, France

*To whom correspondence should be addressed

Received February 23, 1994; Revised April 18, 1994; Accepted April 18, 1994

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 ß class II genes. Previous analyses classified cells from eight MHC class ll-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.


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