These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Adenosine deaminase deficiency in primary immunodeficiencies (author's transl)].
    Author: Belohradsky BH, Hennig N, Marget W, Fudenberg HH.
    Journal: Klin Wochenschr; 1976 Dec 01; 54(23):1109-15. PubMed ID: 1003869.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]