AGAMMAGLOBULINEMIA IN A BROTHER AND SISTER WITH THE CLINICAL ASPECT OF BRUTONS-DISEASE

We report the clinical and laboratory results of a family where one bo y and one girl presented with a clinical picture resembling the X-link ed agammaglobulinemia known as Bruton's disease. Both children showed severe bacterial infections starting at the age of around 6 months, a lack of all immunoglobulin classes and absence of mature B-cells in th e peripheral blood. With respect to reports from the literature these results are yet another indicator for the existence of an autosomal-re cessiv disorder with the same clinical make-up as Bruton's disease. A deletion on chromosome 14 leading to the disorder was identified. Disc ussion: in this case report a rare type of autosomal-recessive immunol ogic disorder with deficient B-cell development,that has to be taken i nto account in the differential diagnosis of primary lack of antibody production, is presented. The clinical course seems to be more severe than that found in X-linked agammaglobulinemia.