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  • Title: [Combination of a Shwachman syndrome and a complex granulocyte function disorder in a girl].
    Author: Dopfer R, Döring A, Niethammer D.
    Journal: Helv Paediatr Acta; 1983 Oct; 38(4):351-60. PubMed ID: 6654686.
    Abstract:
    We report the case of a 1-year-old girl with the typical symptoms of Shwachman syndrome: neutropenia, insufficiency of the exocrine pancreas, and metaphyseal dysostosis. The clinical course is complicated by recurrent infections caused by the neutropenia and an additional defect of granulocyte function. We demonstrate a severe defect of chemotactic activity as well as a disturbance of the intracellular oxidative metabolism leading to defective killing of Staphylococcus aureus and Candida albicans.
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