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Biomedical subjects

J W Stoop

Publications and source records attributed to J W Stoop.

At least 19 recordsLinked to original sources
PubMed1991

Humoral immunodeficiency: from description to the cellular and molecular basis of the defect.

Primary humoral immunodeficiency comprises a number of syndromes which in a descriptive manner indicate the nature and extent of the defect in the synthesis of specific antibodies and likewise of immunoglobulins. The understanding of humoral immunodeficiency has greatly advanced with the increase in knowledge about the cellular and molecular mechanisms of the development of B lymphocytes, which are the precursors of antibody-secreting plasma cells. This article reviews the advances made in the almost forty years that have passed since the first patient with agammaglobulinaemia was described. As far as X-linked agammaglobulinaemia is concerned, it is now clear that this is a disease of B lymphocytes, and that expression of the XLA gene prevents B cell development beyond the pre-B cell stage. Recent studies in patients with late-onset hypogammaglobulinaemia and selective IgA deficiency showed that there may be a common denominator for these two syndromes, since there is a close association with polymorphic antigens of the MHC class III region. Furthermore deletions or mutations of immunoglobulin genes can be the basis of selective deficiencies of one or several immunoglobulin isotypes. However, most of the humoral immunodeficiencies are based on defects in other non-immunoglobulin regulatory genes affecting or engaged in immunoglobulin-isotype synthesis. More recently patients have been described who have normal immunoglobulin isotype and complement levels and who show a selective defect in the antibody production to polysaccharide antigens. These patients most probably form a new disease entity in the spectrum of humoral immunodeficiency syndromes.

Animals↗
PubMed1991

Psychological development as related to puberty, body height and severity of illness in adolescents with cystic fibrosis.

The interrelations between delayed puberty, small stature, severity of illness and psychological development were studied in 64 adolescents with cystic fibrosis (CF). The study included 36 adolescents with asthma bronchiale, 47 adolescents with small stature (height less than 25th percentile) and 71 healthy controls with a height greater than or equal to 25th percentile. All adolescents and the parents of 40 youngsters with CF had extensive personal interviews. Eight aspects of independence and related aspects of self-perception were measured. In CF, delayed puberty and small stature were clearly correlated with less participation in some social activities, a lesser degree of ideal-formation and a less positive body attitude. Small stature appeared to have the same effects in healthy adolescents. Severity of illness in CF and asthma played a role of secondary importance. In general, the perceptions of parents were similar to or slightly more pessimistic than the self-perceptions of their CF children. The need for psychosexual counselling and training in social skills for adolescents with CF is stressed.

Adolescent↗
PubMed1989

Membranoproliferative glomerulonephritis in a patient with congenital deficiency of the third component of complement: effect of treatment with plasma.

A 21-year-old woman with a known congenital complement component 3 (C3) deficiency developed membranoproliferative glomerulonephritis. The kidney biopsy exhibited deposits of immunoglobulins and complement components despite the C3 deficiency. The administration of fresh frozen plasma was without therapeutic benefit. Corticosteroid treatment was followed by an improvement in kidney function.

Adult↗
PubMed1988

What is the best predictor of the severity of ABO-haemolytic disease of the newborn?

In 80 newborn infants ABO-incompatible with their mothers, the lysis-inducing effect of the maternal IgG anti-A or anti-B antibodies in an antibody-dependent cell-mediated cytotoxicity (ADCC) assay and the antigen density of A or B antigens on the red cells of the children were measured. On the basis of the results, the children were divided into two groups--24 children in whom increased haemolysis was to be expected, and 56 children in whom it was not. Signs of haemolysis and serological features of ABO haemolytic disease of the newborn (ABO-HDN) were compared in these two groups and a control group of 120 ABO-compatible infants. The effect of the maternal antibodies in the ADCC assay, the titres of maternal IgG anti-A or anti-B antibodies, the results of the direct antiglobulin test on the red cells in the cord blood, and the titre of IgG anti-A or anti-B antibodies in the serum of the infants were compared for their ability to predict the severity of ABO-HDN. This was also done for the combination of the ADCC assay results plus the A or B antigen density and the direct antiglobulin test plus the titre of maternal IgG anti-A or anti-B antibodies. The ADCC assay with maternal serum was the most sensitive assay to predict ABO-HDN, and the combination of the ADCC assay with A or B antigen density determination the most specific test.

ABO Blood-Group System↗
PubMed1988

The development of independence in adolescents with cystic fibrosis.

This study assessed the development of independence and its interaction with some biologic factors. Sixty-four adolescents with cystic fibrosis (CF) were compared with 36 adolescents with bronchial asthma, 47 healthy but small adolescents, and 71 normal healthy controls. A structured interview was designed to measure eight elements of independence. Adolescents with CF showed less responsibility for their own body hygiene and a delay in intimacy and sexuality, both correlated with puberty not yet having started. They also took less part in a number of social activities outside the home. There were minimal or no differences between ill and healthy adolescents for four elements. The results indicated that in future research, different types of independence should be taken into account. The correspondences between the chronically ill and the healthy adolescents prevailed over the differences. The main differences could be interpreted in terms of realistic coping with the illness and maintaining hope for the future.

Adaptation, Psychological↗
PubMed1988

Maternal antibodies against fetal blood group antigens A or B: lytic activity of IgG subclasses in monocyte-driven cytotoxicity and correlation with ABO haemolytic disease of the newborn.

IgG antibodies against blood group antigens A or B (anti-A/B) are able to sensitize erythrocytes for destruction in an antibody-dependent cell-mediated (ADCC) assay with monocytes as effector cells. The activity of maternal IgG anti-A/B in this test was compared with clinical signs of haemolytic disease of the newborn (HDN). When the ADCC was negative (less than 10% of the sensitized cells lysed), signs of increased red-cell destruction in the children were never observed. In three cases with a strongly positive ADCC (greater than 45% lysis), the children were severely affected and needed more than one exchange transfusion. In the cases with greater than 10% but less than 45% lysis in the ADCC, there was no clear correlation between the result of the ADCC and the degree of lysis in the newborn infants. In these cases, the degree of lysis of the red cells of the infant was shown to be strongly influenced by the number of A/B antigens per red cell. There was a direct correlation between the degree of lysis in the ADCC and the titre of IgG3 anti-A/B in the sera. There was comparable activity of maternal IgG anti-A/B in the ADCC test in the 32nd week of pregnancy and at the moment of delivery.

ABO Blood-Group System↗
PubMed1988

Defective T suppressor-inducer cell function in human immune deficiency virus-seropositive hemophilia patients.

In human immune deficiency virus (HIV)-seropositive hemophilia patients, a low number of CD4 + lymphocytes is found, as well as a low CD4+/CD8+ ratio. In previous studies, it has been shown that antigen-specific T-helper cell (CD4+) function was present and no excessive antigen-specific T-suppressor cell (CD8+) function could be demonstrated. In this report, we studied another activity of CD4+ cells, namely the capacity to induce T-suppressor cell activity. The results clearly show a selective dysfunction of CD4+ suppressor-inducer (Tsi) cell function. Since these HIV-seropositive hemophilia patients showed the presence of activated B cells in the peripheral circulation refractory to antigen-specific T-helper cell signals and secreting specific antibodies spontaneously, we raised the hypothesis that the activated B cells in the patients activate the Tsi cells in vivo. This constant activation leads to a functional exhaustion of the Tsi cell pool.

Antibody Formation↗
PubMed1988

[Disorders in humoral defense: clinical aspects, diagnosis and therapy].

Clinical and immunological findings of 5 patients with distinct defects in either humoral immunity or in the complement system are described. The syndromes presented comprise examples of type I dysimmunoglobulinaemia, X-linked agammaglobulinaemia (XLA), familial deficiency of complement factor C1q and a patient with a selective deficiency in the synthesis of antibodies against pneumococcal polysaccharides. The patients with a defect in humoral immunity all showed recurrent bacterial infections of the respiratory tract. The XLA-patient developed a dermatomyositis-like syndrome and ECHO-virus encephalitis. Prior to the development of a SLE-like syndrome the two siblings with C1q deficiency showed recurrent respiratory tract infections, most probably on basis of a defect in the clearance of immune complexes.

Adolescent↗
PubMed1987

A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics.

Deficiency of purine nucleoside phosphorylase (PNP) was detected in a 3-yr-old boy who was admitted for investigation of a behavior disorder and spastic diplegia. The urinary excretion of purines, analyzed by high-performance liquid chromatography, showed the presence of large amounts of (deoxy)inosine and (deoxy)guanosine and low uric acid levels. Analysis of the (deoxy)nucleotide pools of erythrocytes showed elevated levels of deoxyguanine nucleotides and NAD and decreased guanine nucleotides. PNP activity in red blood cells was 0.1-0.5% of normal on two occasions and undetectable on four later measurements. Furthermore no immunoreactive material could be detected in his red cell lysate using an anti-PNP antiserum. PNP activities in the red cells of the patient's parents were 35 and 50% of normal. The presence of (minor) residual PNP activity in the patient enabled the investigation of some enzyme properties after partial purification. No abnormalities could be detected in substrate affinity for inosine, heat stability, and electrophoretic properties. In the heterozygous parents no signs of a mutant enzyme could be found. The molecular specific activities of the parental enzymes were also normal, indicating that no immunoreactive material attributable to inactive-mutant enzyme subunits was present. A striking feature of the patient is the prevailing neurologic abnormalities presumably caused by the metabolic disorder. A severe lymphopenia exists; however, clinical symptoms of an immune deficiency did not become apparent until the age of 4 yr.

Attention Deficit Disorder with Hyperactivity↗
PubMed1987

Defect in B cell function in HTLV III/LAV positive hemophilia patients.

The capacity of the peripheral blood lymphocytes (PBL) to generate an antibody response in vitro T cell-dependent antigen ovalbumin was studied in 12 severe hemophilia patients who were otherwise in good health. PBL from four of 12 patients were not capable of generating such a response after stimulation in vitro, whereas all controls were normal. This negative plaque-forming cell (PFC) response coincided with the presence of antibodies directed toward human T-lymphotropic virus III/lymphadenopathy-associated virus (HTLV-III/LAV). Only one patient with antibodies against HTLV-III/LAV had a normal PFC response. The negative PFC response was not due to a deficient T helper cell activity, nor to an excessive T suppressor cell function. However, in the peripheral blood of these four patients, the presence of activated B cells that are refractory to antigen-specific T helper cell signals and secrete specific antibodies spontaneously could be demonstrated. Most of the patients showed a hyperimmunoglobulinemia. No correlation between the T4/T8 ratio and the level of the PFC response was demonstrable. From the data obtained in these investigations we raise the hypothesis that infection with HTLV-III/LAV in hemophilia patients will lead to in vivo (pre)activation of B cells that results in unresponsiveness or decreased response to antigen-specific signals.

Adolescent↗
PubMed1986

Purine nucleoside phosphorylase (PNP) deficiency leading to accumulation of lymphocytes in S-phase.

Freshly isolated mononuclear cells of a patient with purine nucleoside phosphorylase (PNP) deficiency contained 7-11% cells in S-phase. During treatment with deoxycytidine and tetrahydrouridine these cells disappeared from peripheral circulation, indicating that the in vivo accumulation of S-phase cells is caused by a shortage in deoxycytidine triphosphate. In vitro it was not possible to cause a blockade in S-phase by culturing normal or PNP-deficient lymphocytes in the presence of deoxyguanosine.

Deoxycytosine Nucleotides↗
PubMed1986

[Typhoid fever in childhood].

Typhoid fever is an uncommon disease in the Netherlands. Acquisition occurs mainly during holidays in an endemic area. The history of three children, admitted in the summer of 1985, will be discussed, in one of them the disease had a complicated course. A short review of the literature is given, especially regarding pathogenesis, diagnosis and treatment. Cultures of blood, faeces and bone-marrow are essential for diagnosis. Bone marrow culture remains the most effective method for recovery of the causative agent, especially in children who previously were treated with antibiotics. Chloramphenicol still is the drug of choice in treatment. Vaccination with the oral typhoid vaccine of children who intend to visit an endemic area is recommended.

Bone Marrow↗