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Prenatal diagnosis and heterozygote detection in adenosine deaminase deficiency

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Book cover Inborn Errors of Immunity and Phagocytosis

Abstract

Severe combined immunodeficiency disease (SCID) is a fatal syndrome of infancy characterized by defects of both cellular and humoral immunities1,2. Based upon the pattern of inheritance, at least two different forms of the syndrome exist: an X-linked and an autosomal recessive form. In a proportion of families with the autosomal recessive form of SCID, the disorder is due to an inherited deficiency of the purine salvage enzyme, adenosine deaminase (ADA)3-5.

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References

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© 1979 The Society for the Study of Inborn Errors of Metabolism

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Hirschhorn, R. (1979). Prenatal diagnosis and heterozygote detection in adenosine deaminase deficiency. In: Güttler, F., Seakins, J.W.T., Harkness, R.A. (eds) Inborn Errors of Immunity and Phagocytosis. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-6197-8_5

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  • DOI: https://doi.org/10.1007/978-94-011-6197-8_5

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-011-6199-2

  • Online ISBN: 978-94-011-6197-8

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