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Biomedical subjects

M Chisholm

Publications and source records attributed to M Chisholm.

At least 19 recordsLinked to original sources

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.

A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.

Base Sequence

Consultation.

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Health Facility Administration

Consultation.

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Consultants

Interferon production in leukaemia.

Leucocyte interferon production in vitro and circulating interferon levels were studied in healthy subjects and in 80 patients with acute or chronic leukaemia. Circulating interferon was not found in either group. Interferon synthesis in response to a virus was normal in patients with acute leukaemia and appeared to be enhanced in some. In chronic leukaemia reduced levels were common particularly in CLL, in which condition normal results were rarely found; lymphocyte transformation to PHA was also depressed in this group. No clinical or haematological correlation with the interferon levels was found and no consistent effect of treatment was shown. The possible factors which could account for these findings and their significance in relation to pathogenesis and treatment of leukaemia are discussed.

Humans

Biosynthesis and characterization of intracellular IgDkappa in a case of CLL.

A case of chronic lymphocytic leukaemia (CLL) with diffuse intracellular IgDkappa is reported. No serum paraprotein or urinary Bence-Jones protein were detected. No surface immunoglobulin was found on the neoplastic lymphocytes, but the cells had receptors for Fcgamma and the C3 component of complement consistent with other cases of CLL. Biosynthetic studies confirmed that the cells synthesized IgDkappa but there was no evidence for secretion of IgD into the culture medium. The cells did not produce Ig of any other class. The intracellular IgD occurred predominantly as deltakappa units with no covalent links between the chains. These findings are discussed.

Binding Sites, Antibody