PRIMARY IMMUNODEFICIENCY DISORDERS IN TUNISIA - A STUDY OF 152 CASES

Background. - Primary immunodeficiencies are rare immunopathological d isorders. A multidisciplinary study group war set up in Tunis in 1988 and has since identified 152 cases of such diseases. We herein present our series and compare it to the international registries. Population and methods, - Over a period of 8 years (April 1988-April 1996), 295 children suffering from recurrent infections were investigated; primar y immunodeficiency was confirmed in 152 out of them. The immunological investigation included a study of specific and/or non specific humora l and cellular immunity. Results. - These 152 patients belonged to 129 families among which 70 were consanguine (54%). Familial primary immu nodeficiency occurred in 23 of them. In 39 families (30%) one or more deaths occurred during early childhood. In more than half of the cases (89 cases), the immunological investigations revealed a cellular or c ombined immunodeficiency with a majority of ataxia-telangiectasia synd romes (53 cases), T cell activation immunodeficiencies (12 cases) and HLA class II deficiency (nine cases). A predominant antibody defect wa s observed in 35 patients with a majority of agammaglobulinemia (II ca ses) and hyper-IgM syndromes (II cases). A defect of non specific cell ular immunity was found in 18 cases (11.8%) including seven cases of c hronic granulomatous disease and five cases of leukocyte adhesion defi ciency. Three children (1.9%) were deficient in the complement system. Deaths occurred so far in 37 patients (24.3%). Conclusions. - Primary immunodeficiencies are relatively frequent in Tunisia, probably becau se of the high rare of consanguinity among the general population. The distribution of the different groups of primary immunodeficiencies is characterized by high frequency of ataxia - telangiectasia and hyper- IgM syndrome and scarcity of severe combined immunodeficiencies and Wi skott-Aldrich syndrome.