Background Primary immunodeficiency disorders (PID) are a heterogeneous group of diseases, characterized by an increased susceptibility to infections. This study was accomplished in order to determine the frequency of PID in the south of Tunisia and to collect information on clinical experience with these disorders.
Patients and methods Over a period of 22 years (1986–2007), primary immunodeficiency was confirmed in 35 patients (21 boys and 14 girls). The immunological investigation included a study of specific and/or non-specific humoral and cellular immunity.
Results These 35 patients belonged to 32 families, among which 27 were consanguine (77%). In 12 families (20%), one or more deaths occurred during early childhood. The clinical symptoms started at the mean age of 35 months (2 months–10 years).
In more than half of the cases (27 cases), the immunological investigations revealed a cellular or combined immunodeficiency with a majority of ataxia-telangiectasia syndromes (10 cases), and HLA class II deficiency (6 cases). A predominant antibody defect was observed in 3 patients (one case of agammaglobulinemia, one case of hyper-lgM syndrome and one case of IgA deficiency). A defect of non-specific cellular immunity was found in 5 cases (4 cases of chronic granulomatous disease and 1 case of Buckley syndrome).
Conclusions PID are relatively frequent in Tunisia, probably because of the high rate of consanguinity among the general population. The distribution of the different groups of primary immunodeficiencies is characterized by high frequency of ataxia-telangiectasia and HLA class II deficiency.