Ataxia telangietasia [about 11 cases]

Ataxia telangiectasia [AT] is an autosomal recessive disorder, caracterized by progressive cerebellar ataxia, oculocutaneos telangiectasia, immunological abnormalities and increased susceptibility of malignancies. Our study objectives are to provide the last data in genetic, clinical and therapeutic fields concerning AT in order to help our doctors to establish the diagnosis in the first stages and so participite to the diagnosis of the primary immunodeficiency diseases. Our 11 patients are from 7 families and the consanguinity was found in 8 cases. The median age of diagnosis is about 7 years and 7 months. The clinical study had found out eight cases of manifest ataxia, nine times bulbar telangiectasias and eight cases of bronchectasias. On the immunological side, the serum IgA deficiency was found 5 times and one case had showed lymphopenia. The taking in charge consisted in infectious episodes treatement and continuous antibiotic prophylaxis, IGIV infusion was used only four times. The course of our patients was characterized by regression of infectious signs in five cases and the death of five others. One patient had never been seen again. Our set was charactezed by the heterogenecity of the features. In one hand we had severe form with a very soon start and in the other hand we had a mild clinical form with a late start

[Primary immunodeficiency in children in Casablanca: a 73 cases report]

Primary immunodeficiencies [PID] seem to have two particularities in the Maghreb countries: a higher frequency than in the occidental countries and a higher proportion of deficiency of HLA class II antigens. Patients and method: a four-year study reports 73 PID cases between 1997 March and 2001 February in the Clinical Immunology Unit of the Casablanca Children Hospital. These 73 cases were diagnosed, according to the WHO criteria, among 358 children with recurrent and/or severe infections. They had an immunological assessment: tuberculin IDR, blood cells, serum immunoglobulin A G and M, lymphocytes classes. we found 18 combined immunodeficiency including 5 deficiencies of HLA class II antigens, 18 antibody defects, 17 complex immunodeficiencies including 11 ataxia-telangiectasia syndromes, 13 PID associated to an other disorder including 4 hyper IgM syndrome, 6 phagocyte disorders and one complement defect. Because of their high cost, the intravenous immunoglobulins were used in only 29 children and the bone marrow transplantation is not available in our country. Twenty six children died in this study. Comments: as in Tunisia, our study confirms the high frequency of combined and complex PID in comparison to the occidental studies, and we have to develop the PID diagnostic and treatment resources in our country