Fetal liver transplantation in two infants with severe combined immunodeficiency.
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Biomedical subjects
Publications and source records attributed to L Businco.
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The case of a two-month -old female infant, who after a severe diarrhoea treated with prolonged intravenous infusion in peripheral veins alternated with total parenteral feeding, developed a Candida albicans septicemia (accompanied by disseminated intravascular coagulation syndrome) is reported. The course of her disease was also complicated by multiple foci of osteoarthritis in both knees, in the left hip and in several long-bones. Radiographically the foci of Candida osteitis appeared as fine erosion of the cortex and minute round areas of osteolysis in the spongiosa, surrounded by a rim of perifocal sclerosis. During the acute stage of Candida sepsis a transitory cellular immunodeficiency was present. Treatment of Candida infection by 5-fluorocytosine was followed by complete recovery.
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The frequency of PC allele for acid phosphatase in fourteen Sardinian villages correlates positively with the altitude and negatively with past malarial morbidity and GdMed prevalence. The susceptibility towards hemolytic favism in Sardinian males with G6PD deficiency is dependent on the erythrocyte acid phosphatase and thalassemia phenotypes. Thalassemia trait exerts a protective action only in subjects carrying PA allele for acid phosphatase. The data suggest that the gradient for malaria morbidity directly or indirectly, through interactions with thalassemia and G6PD polymorphisms, mediated by the habit of eating Vecia faba, may have had a significant role in determining the heterogeneous distribution of acid phosphatase polymorphism in Sardinia. Besides malaria, other environmental factors related with altitude seem to have been very important in shaping the present pattern of distribution of both acid phosphatase and G6PD polymorphisms in Sardinia.
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The case is reported of a 4-year-old girl affected with recurrent infections; anaemia, thrombocytopenia, haemorrhages and hepatosplenomegaly. Immunological investigations revealed a defect in cellular immunity related to the thymus-dependent system, hypergammaglobulinaemia (especially of class IgE), and very high titres of antibodies against Epstein-Barr virus (EBV). After foetal thymus transplantation, correction of the immunological defect and significant clinical improvement were noted, as well as a decrease of IgE and EBV antibody titres.
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The frequency of carriers of the P(a)and P(c) alleles of the gene for acid phosphatase in the erythrocyte is significantly higher in male subjects deficient in glucose-6-phosphate dehydrogenase and having hemolytic clinical favism than it is in the general population. This observation seems to indicate that alleles (P(a) and P(c)) of a gene polymorphic in all human populations affect the fitness of the involved phenotypes in special genotypic and nongenotypic conditions.