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Published on: October 19, 2014
Bone marrow hemophagocytosis and immunological abnormalities in a patient with lysinuric protein intolerance
1Department of Pediatric Hematology, Gazi University School of Medicine, Ankara, Turkey.
Abstract:
Lysinuric protein intolerance (LPI) is an inborn error of amino acid transport characterized by a wide spectrum of clinical and biochemical abnormalities. Bone marrow hemophagocytosis in this disorder is an intriguing finding, present mostly in Italian patients. We report a 19-month-old Turkish infant with LPI, bone marrow hemophagocytosis, interstitial lung disease and immunological abnormalities unprecedented in the current literature. Possible etiologic factors responsible for hemophagocytosis and the differential diagnosis of hemophagic syndromes are discussed.
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