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[Correction of fatal genetic diseases using bone marrow transplantation. 1].

Bone marrow transplantation (BMT) was mainly used for the treatment of immunological, hematological and oncological diseases. Genetic diseases can also be treated by transplantation of normal histocompatible allogeneic bone marrow. This type of marrow transplantation is used for the treatment of inborn errors whose clinical expression is restricted to lymphoid or hematopoietic cells. The therapeutic role of bone marrow transplantation in the treatment of generalized genetic diseases is under investigation. Genetic disorders that can be cured include congenital immune deficiencies, infantile malignant osteopetrosis, thalassemia, infantile agranulocytosis, chronic granulomatous disease, lysosomal storage diseases and others. The use of autologous bone marrow after the insertion of a normal gene (gene therapy) in vitro circumvents the need for a histocompatible donor.

Bone Marrow Transplantation↗
PubMed1983

Purine metabolism in relation to leukemia and lymphoid cell differentiation.

A number of inborn errors of purine metabolism have been associated with immunodeficiency diseases. From studies to the possible mechanism(s) leading to the defects in the immune system, it appeared that the accumulation of deoxyATP and deoxyGTP and the subsequent inhibition of ribonucleotide reductase played an important role. The inhibition of methylation pathways through the accumulation of s-adenosylmethionine seems to be a second valid concept. The amount to which certain subtypes of lymphoid cells were affected by the enzyme deficiencies was strongly related to the enzymatic make-up of the cells. Lymphoid cells from different maturation stages could be affected in a specific way, depending on the different enzyme activities of these cells. Studies on human lymphoblastic leukemias showed that, related to the immunological subtype, the different leukemias could be characterized by a different enzymatic make-up. In this paper we discuss the possibilities for a specific enzyme directed chemotherapy, directed against specific subtypes of human lymphoblastic leukemias. Experimental evidence indicates that for example the adenosine deaminase inhibitor 2'deoxycoformycin can be used as a specific drug against acute lymphoblastic leukemia with the T cell phenotype.

Adenosine↗
PubMed1983

Isoenzyme pattern and immunological properties of arginase in normal and hyperargininemia fibroblasts.

Arginase deficiency is an inborn error of the last step in the urea cycle and leads to profound hyperargininemia. The enzyme deficiency has been demonstrated in the liver and red blood cells. In cultured patient fibroblasts, the activity is normal. Arginase exists in multiple molecular forms only one of which is missing in hyperargininemic patients. In fibroblasts, three arginase isoenzymes can be demonstrated by DEAE-cellulose column chromatography, two by electrophoresis and by immunoprecipitation methods. From the present data, it is improbable that part of the A1 isoenzyme in fibroblasts originates from fetal calf serum arginase which supplements the culture media. None of the techniques for the separation and analyses of arginase isoenzyme allows to differentiate between the normal and the arginase-deficient phenotype. A possible explanation would be that the defect in A1 arginase observed in the liver is the result of a regulatory defect.

Amino Acid Metabolism, Inborn Errors↗
PubMed1969

Differentiation of glomerular, tubular, and normal proteinuria: determinations of urinary excretion of beta-2-macroglobulin, albumin, and total protein.

A low molecular weight beta(2)-globulin (beta(2)-microglobulin), albumin, and total protein were measured in concentrated 24-hr urine specimens from 20 healthy subjects and 30 patients with clinical proteinuria of glomerular or tubular type. Classification of proteinuria was made on the basis of clinical diagnosis and size distribution of urinary proteins after gel chromatography. The molecular radii (Stokes' radii) of beta(2)-microglobulin and albumin, estimated by gel chromatography, were 15 A and 35 A. The average 24-hr urinary excretion in healthy subjects was 0.12 mg for beta(2)-microglobulin, 10 mg for albumin, and 80 mg for total protein. The patients with renal glomerular disorders had normal or only somewhat increased excretion of beta(2)-microglobulin, despite considerably increased excretion of albumin and total protein. Most of the patients with tubular dysfunction excreted large amounts of beta(2)-microglobulin, although they excreted normal or only slightly increased amounts of albumin and only moderately increased quantities of total protein. Consequently, the ratio or urinary albumin/urinary beta(2)-microglobulin was high in glomerular proteinuria (1100: 14,200), intermediate in normal proteinuria (33: 163), and low in tubular proteinuria (1.0: 13.3). Determinations of urinary clearances of beta(2)-microglobulin and albumin in four healthy subjects and 11 patients indicated that increased excretions of the two proteins were associated with increased clearances. The results suggest that quantitative determinations of urinary beta(2)-microglobulin and urinary albumin may be useful for detecting disorders of the renal handling of plasma proteins. The findings also seem to suggest a selective tubular reabsorption of the two proteins. Estimates on sera revealed a close correlation between serum levels of beta(2)-microglobulin and creatinine and also a greatly raised serum concentration of beta(2)-microglobulin after bilateral nephrectomy.

Acidosis, Renal Tubular↗
PubMed1971

Opsonic defect in patients with cystic fibrosis of the pancreas.

Cystic fibrosis of the pancreas is one of the most common inborn errors of metabolism. The high incidence of morbidity and mortality in these patients is primarily due to severe and frequent pulmonary infection. To date, no immune deficiency has been found in cystic fibrosis patients. Their sera contain normal quantities of immunoglobulins and hemolytic complement. In an assay of phagocytosis by alveolar macrophage, six out of nine sera from cystic fibrosis patients failed to support normal phagocytosis of Pseudomonas aeruginosa. This deficiency could be corrected by increasing the concentration of serum used in the assay. By contrast, their sera supported normal phagocytosis of Pseudomonas by blood polymorphonuclear leukocytes and continued to support normal phagocytosis when serum dilutions were used. Two patients with severe isolated deficiences of serum immunoglobulin A were found to have a similar defect in the alveolar macrophage assay, but normal phagocytosis by polymorphonuclear leukocytes. It is postulated that cystic fibrosis patients may have a quantitative and (or) functional defect of IgA antibodies, specific for Pseudomonas, and possibly of importance in the pathogenesis of their pulmonary disease.

Adolescent↗
PubMed1982

Differences among immunosuppressive agents.

Immunosuppressive agents have diverse (although often multiple) sites of action in the cell sequences that are involved in immune responses. New routes to selectivity are apparent at both the cellular and the biochemical level. Meanwhile, clinical work is finding new uses and more selective employment of the currently available agents.

Adenosine Deaminase↗