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Adenosindesaminase-Mangel bei primären Immundefizienzen

Adenosine deaminase deficiency in primary immunodeficiencies

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Summary

The occurrence of severe combined immunodeficiency (SCID) with adenosine deaminase (ADA) deficiency in erythrocytes has been reported in 14 patients. Enzyme deficiency may result in early depression of the lymphatic system. ADA is detectable in different tissues by photometric and electrophoretic methods. The gene locus for ADA has been localised on chromosome 20. Studies on the enzyme defect in different forms of primary immunodeficiencies led to the description of a well defined nosological entity. New aspects can be expected in the fields of pathogenesis, prenatal diagnosis, genetic councelling, and possibly therapeutic trials.

Zusammenfassung

Von 14 Patienten mit schwerer kombinierter Immundefizienz (SCID) wurde ein Mangel an Adenosindesaminase (ADA) in den Erythrozyten berichtet. Die unzureichende Entwicklung des lymphatischen Systems ist möglicherweise Folge des Enzymmangels. ADA kann spektralphotometrisch und elektrophoretisch in verschiedenen Geweben nachgewiesen werden. Der Genort für ADA liegt auf Chromosom 20. Untersuchungen des Enzymdefekts bei verschiedenen Formen primärer Immundefizienzen erlauben die Abgrenzung einer genetisch definierten Krankheitseinheit. Für die Klinik ergeben sich neue Aspekte in der Pathogeneseforschung, pränatalen Diagnostik, genetischen Beratung und möglicherweise kausalen Behandlung der SCID mit ADA-Mangel.

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Belohradsky, B.H., Hennig, N., Marget, W. et al. Adenosindesaminase-Mangel bei primären Immundefizienzen. Klin Wochenschr 54, 1109–1115 (1976). https://doi.org/10.1007/BF01469254

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