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Biomedical subjects

C M Weemaes

Publications and source records attributed to C M Weemaes.

7 recordsLinked to original sources
PubMed1992

Immunological studies in the hyper-immunoglobulin D syndrome.

Five patients with hyper-immunoglobulin D syndrome (hyper-IgD syndrome) were followed up for 3 to 8 years. In all patients studied, serum IgG3 was high. IgM decreased during the follow-up in all patients. In four of the patients serum IgA was elevated. In four patients the serum IgD kappa/lambda ratio was measured and was found to be raised in all. However, the serum total light-chain ratio and IgG, IgA, and IgM kappa/lambda ratios separately were virtually normal. In two of the patients, clinical symptoms preceded the increase in serum IgD. All patients had a history of severe reactions on immunizations in early childhood. We conclude that in hyper-IgD syndrome, other immunoglobulins may also be affected, in particular, IgA, IgM, and IgG3. The IgD light-chain ratio is also disturbed. We emphasize that clinical symptoms may herald immunological changes. This may be the result of an underlying factor causing both the clinical symptoms and, later, the increasing serum IgD levels.

Adolescent↗
PubMed1979

Karyotype instability with multiple 7/14 and 7/7 rearrangements.

Chromosomes were studied in a mentally retarded boy with microcephaly, growth retardation, facial erythema, café-au-lait spots, and IgA deficiency. In the lymphocytes there was a remarkable tendency to exchange parts of the chromosomes Nos. 7 and 14, the translocations almost exclusively taking place in bands 7p13, 7q32 and 14q11. Seven different types of rearrangements between Nos. 7 and 14, and some other chromosomal aberrations were found. No abnormalities could be detected in the bone marrow. The patient somewhat resembles those affected with ataxia-telangiectasia or with Bloom's syndrome, but on clinical and cytogenetic grounds these disorders could be excluded. 7/14 Translocations similar to those found in our patient's lymphocytes have been reported to occur very rarely in the lymphocyte cultures of individuals with apparently normal chromosome constitution. A relationship between these phenomena may exist.

Child↗
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↗
PubMed1977

Bloom's syndrome in two Dutch families.

The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun-sensitivity of the skin; and decreased immuno-competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome. The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister-chromatid exchanges per cell.

Abnormalities, Multiple↗
PubMed1976

Defective initiation of the metabolic stimulation in phagocytizing granulocytes: a new congenital defect.

Two patients suffering from recurrent bacterial infections were studied: a boy and a girl from one family, children of apparently healthy parents. The granulocytes of these patients were capable of normal ingestion of latex particles and DNA-anti-DNA immune complexes. When the metabolic changes in these granulocytes during phagocytosis of latex particles were studied, however, no stimulation of oxygen consumption, superoxide production, or hexose monophosphate shunt activity could be observed. Moreover, zymosan particles were not iodinated. These findings are comparable to those found in chronic granulomatous disease. In sharp contrast to the observations in this latter disease, however, a completely normal stimulation of cell metabolism was found after phagocytosis of IgG-coated latex particles or IgG aggregates. Since latex and IgG-coated latex were equally well ingested, this means that the absence of metabolic stimulation after uptake of tatexf metabolic stimulation after uptake of latex must be due to a defect in the triggering of the oxidative burst. As far as we know, this is the first time that a defect in the triggering of the metabolic stimulation during phagocytosis could be demonstrated. Moreover, these finding suggest that adherence and subsequent ingestion of particles are in themselves not sufficient for the metabolic stimulation of granulocytes.

Adult↗