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Biomedical subjects

J W Stoop

Publications and source records attributed to J W Stoop.

At least 55 records · Page 3Linked to original sources
PubMed1979

Agammaglobulinaemia associated with the occurrence of a monoclonal immunoglobulin.

A patient is described with a monoclonal immunoglobulin of the IgG class in the serum and no detectable IgM and IgA. Extensive immunological investigations showed the absence of B-lymphocytes in bone marrow and peripheral blood. Moreover, plasma cells were not present in the bone marrow. The monoclonal IgG was synthesized in the gastrointestinal tract. The cellular immune-status of the patient was synthesized in the gastrointestinal tract. The cellular immune-status of the patient was normal. Clinically the patient suffered from gastrointestinal and severe respiratory tract infections. It was concluded that the findings are consistent with the diagnosis congenital agammaglobulinaemia with concurrence of monoclonal IgG. It was postulated that the cell clone in the gastrointestinal tract resulted from an escape of a pre-B cell clone from the recongized arrest of pre-B cells in congenital agammaglobulinaemia.

Agammaglobulinemia↗
PubMed1978

An approach to the restoration of T cell function in a purine nucleoside phosphorylase deficient patient.

A patient with a selective impairment of T cell-dependent immunity based on a purine nucleoside phosphorylase (PNP) deficiency has been treated with transfusions of irradiated erythrocytes and plasma. After each transfusion with PNP-containing erythrocytes a decrease in accumulated nucleosides and their deoxy compounds was observed, whereas uric acid excretion and serum uric acid increased. Lymphocyte counts increased transiently after each erythrocyte and plasma infusion and a partial restoration of T cell-dependent immunity was gradually attained. The pattern of restoration was reminiscent of the immunological reconstitution seen in patients with severe combined immunodeficiencies treated with bone marrow transplantation. Amelioration of T cell-dependent immunity was shown to be related to the metabolic changes. On the basis of the presumed mechanism of lymphocyte intoxication and consequently starvation of intracellular DNA precursors, deoxycytidine was given orally. This did not lead to further improvement in immunological function. However, partial restoration of immunological disturbances in PNP deficiency can be attained by erythrocyte transfusions and evidence is presented that additional pharmacological approaches are possible.

Antibody Formation↗
PubMed1978

Identification of rosette-forming cells in permanent preparations.

A method is described for the identification of leucocytes in permanent cytocentrifuge rosette preparations made with the fluorescent methyl green pyronin-SITS (MPS) staining technique. The percentages of rosettes in stained slides agree well with the results obtained with the conventional haemocytometer method. Application of the MPS staining to cytocentrifuge preparations permits reliable morphological differentiation between free and rosetting leucocytes, and should be particularly valuable in studies on lymphocyte subpopulations in patients.

Centrifugation↗
PubMed1978

Purine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase.

Rates of purine synthesis de novo, as measured by the incorporation of [14C]formate into newly synthesized purines, have been determined in cultured human fibroblasts derived from normal individuals and from patients deficient in adenosine deaminase, purine nucleoside phosphorylase, or hypoxanthine phosphoribosyltransferase, three consecutive enzymes of the purine salvage pathway. All four types of cell lines are capable of incorporating [14C]formate into purines at approximately the same rate when the assays are conducted in purine-free medium. The purine overproduction that is characteristic of a deficiency in either the transferase or the phosphorylase and that results from a block in purine reutilization can be demonstrated by the resistance of [14C]formate incorporation into purines to inhibition by hypoxanthine in the case of hypoxanthine phosphoribosyltransferase-deficient fibroblasts and by resistance to inhibition by inosine in the case of purine nucleoside phosphorylase-deficient fibroblasts.

Adenosine Deaminase↗
PubMed1978

Experiences with thymosin in primary immunodeficiency disease.

Thymosin has no effect in vitro on cyclic AMP levels in thymocytes. However, when thymosin was injected into patients lacking "serum factor" (SF) activity, it induced the appearance of SF or SF-like activity and the disappearance of target cells for SF among the peripheral blood lymphocytes of the treated patients. On the other hand, when thymosin was injected into one patient with normal SF activity, it induced a marked decrease of SF activity and the appearance of target cells for SF among the peripheral blood lymphocytes of this particular patient.

Animals↗
PubMed1977

Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.

We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after which a gradual decrease in T-cell immunity developed. This selective cellular immunodeficiency was inherited as an autosomal recessive trait: two older sisters had the same immunodeficiency. Adenosine deaminase activity was present in erythrocytes and lymphocytes of the patient, parents and a healthy brother. Purine nucleoside phosphorylase activity was not found in the patient's erythrocytes and lymphocytes (the parents and brother had intermediate values, indicating that the enzyme deficiency too was inherited as an autosomal recessive trait). Analysis of serum and urine from the patient and of serum from her two deceased sisters showed high levels of inosine and guanosine in addition to hypouricemia and hypouricosuria. The bone marrow was megaloblastic, and the blood hypochromic microcytic. The patient had spastic tetraparesis. Intoxication of the T lymphocytes after birth by metabolic products may explain the progressive cellular immunodeficiency.

B-Lymphocytes↗
PubMed1977

A patient with purine nucleoside phosphorylase deficiency: enzymological and metabolic aspects.

1. Enzymological and metabolic data in a patient with nucleoside phosphorylase (NP) deficiency are described. 2. Incubation of intact NP-deficient red cells with [14C]adenosine showed a rapid uptake and conversion to inosine. Almost no radioactivity was incorporated in the adenosine nucleotides and no hypoxanthine labeling could be detected. 3. Incubation with [14C]inosine resulted in a rapid conversion to IMP in the normal intact red cells but in an accumulation of inosine in the medium with the erythrocytes of the patient, proving again that a NP deficiency is present. 4. The high PRPP level found may result from impaired consumption due to lack of substrates for the salvage enzyme HGPRT. 5. Incubation with [14C]hypoxanthine and [14C]adenine showed that normal HGPRT and APRT activities were present in the NP-deficient red cells. 6. In serum and urine of the patient the levels of inosine and guanosine were considerably increased, while the serum and urinary levels of uric acid were very low. In the two deceased sisters NP deficiency was also strongly suggested by analyses of the serum purines, of stored deep frozen samples.

Adenine↗
PubMed1977

Inactivation of heamolytic complement by house dust allergen in the serum of children with atopic diseases.

Purified house dust allergen has been employed for screening the susceptibility to inactivation of haemolytic complement in the blood serum of atopic children and control subjects. Fluid phase complement in the control group of children was more sensitive to allergen-induced inactivation than observed in a normal adult population. Though the mean complement sensitivity indices in all groups of patients were below the valve for the control group, there was considerable statistical overlap. The serum complement sensitivities were in no way related to the clinical manifestations. The results of the complement test were not correlated to the total IgE levels, the RAST scores nor the skin reactions with house dust allergen. Some evidence for the in vivo involvement of the complement system in childhood atopic allergy was provided: the mean C3 proactivator level was significantly lower in atopic children, than in the control group; the mean C4 level in children with bronchial asthma and in children with atopic dermatitis was significantly depressed. A significant positive correlation between the serum C4 levels and allergen-complement sensitivities in children with both bronchial asthma and atopic dermatitis was observed.

Adolescent↗
PubMed1976

An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity.

1. Purine nucleoside phosphorylase and adenosine deaminase (ADA) were studied in normal red blood cells and lymphocytes and in the cells of a family with a child with a defective T-cell-and normal B-cell immunity. 2. In the propositus no purine nucleoside phosphorylase (NP) activity could be detected in her red cells and lymphocytes, while the ADA activity was somewhat increased. The NP activities of the father, mother and brother of the propositus are in the heterozygote range. The decreased activity of NP was not only found for the substrate inosine but also when guanosine or xanthosine were used as substrate. The mode of inheritance is autosomal recessive. 3. With starch gel electrophoresis no NP activity could be detected in the patient's haemolysate. The electrophoretic patterns of NP from the father, mother and brother of the patient seem to be the same as for normal NP with six bands of NP activity. 4. The nucleoside phosphorylases of the father, mother and brother of the patient were characterized by an increased KM for the substrate inosine, normal pH optimum and a decreased heat stability.

Adenosine Deaminase↗
PubMed1976

Kappa-chain deficiency. An immunoglobulin disorder.

Since kappa-chain deficiency is an unusual condition, we studied the clinical and laboratory findings in a patient with this deficiency. The patient had cystic fibrosis with concurrent malabsorption, diabetes mellitus and IgA deficiency. The serum levels of IgM and IgG were 0.85 and 7.22 mg per milliliter, respectively. Kappa type IgM and IgG was not present in serum and external secretions; gamma, mu and lambda chains were probably polyclonal in character. Antibodies against kappa chains were not detected in either the patient or the mother. Plasma cells containing kappa-type immunoglobulins were absent in jejunum samples and bone marrow; kappa-chainbearing B lymphocytes could not be detected in blood and bone marrow. The serum of one of the patient's sisters contained trace amounts of kappa-type immunoglobulins. The patient displays a complete absence of kappa-type immunoglobulins, probably owing to a genetic defect.

Antibodies, Anti-Idiotypic↗
PubMed1976

[Phospho-hexo-isomerase deficiency].

Hematologic, genetic and biochemical data of two patients suffering from glucosephosphate isomerase deficiency are described. In one of them a generalized deficiency could be demonstrated. The molecular instability of the deficient enzyme results in early inactivation. Its consequences for carbohydrate metabolism are exposed. Besides a non-spherocytic hemolytic anemia, a hepatic glycogenosis could be observed. Our patients are compared to litterature.

Anemia, Hemolytic, Congenital Nonspherocytic↗
PubMed1975

Serum immunoglobulins in healthy children and adults. Levels of the five classes, expressed in international units per millilitre.

Serum levels of IgM, IgG, IgA, IgD, and IgE were determined in serum samples of 270 healthy Dutch children (aged 4-13 years) and of 30 healthy Dutch adults, the amounts being expressed in International Units per millilitre. Special attention is given to the IgD and IgE results, since the IgM, IgG, and IgA levels in mg per 100 ml of these sera and their implications have already been reported. In the children's sera the occurrence of relatively high IgD and IgE levels was frequently observed, whereas the adult group did not show excessive variation in this respect. The mean IgD levels found for adult males and females are 21 I.U./ml and 24 I.U./ml, respectively; the mean IgE levels for the same groups are 68 I.U./ml and 88 I.U./ml, respectively. The mean IgD and IgE levels in the children of each year group were usually higher than those of each of the juvenile groups and the mean level of the adult group was not statistically significant. A statistically significant influence of sex and season on the IgD and IgE levels could not be demonstrated in this material either. Three of the 270 children's sera showed an exceptionally low IgA content. In two of these cases the serum was sampled and studied a second time after an interval of four years, when the IgA deficiency proved to be still present. The IgE levels in the sera of these healthy IgA-deficient children were normal, whereas the presence of IgD could not be demonstrated.

Adolescent↗