Two complementation groups account for most cases of inherited MHC class II deficiency.
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.
INSERM U132, Hopital des Enfants Malades, Paris, France.
B
B
Lisowska-Grospierre
M C
MC
Fondaneche
M P
MP
Rols
C
C
Griscelli
A
A
Fischer
D000352:Africa, Northern / Q000208:ethnology; D001402:B-Lymphocytes / Q000276:immunology; D002459:Cell Fusion; D002460:Cell Line; D002478:Cells, Cultured; D002648:Child; D005347:Fibroblasts / Q000276:immunology; D005455:Fluorescent Antibody Technique; D005602:France; D015870:Gene Expression; D005802:Genes, MHC Class II; D005808:Genes, Recessive; D005816:Genetic Complementation Test; D006681:HLA-D Antigens / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000096:biosynthesis / Q000235:genetics; D006684:HLA-DR Antigens / Q000096:biosynthesis / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D007371:Interferon-gamma / Q000096:biosynthesis; D013030:Spain / Q000208:ethnology
D006681:HLA-D Antigens; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D007371:Interferon-gamma