title: Bone marrow hemophagocytosis and immunological abnormalities in a patient with lysinuric protein intolerance.
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.
authors.affiliation: Department of Pediatric Hematology, Gazi University School of Medicine, Ankara, Turkey.
authors.forename: T
authors.initials: T
authors.lastname: Gürsel
authors.forename: U
authors.initials: U
authors.lastname: Koçak
authors.forename: L
authors.initials: L
authors.lastname: Tümer
authors.forename: A
authors.initials: A
authors.lastname: Hasanoğlu
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000276:immunology* / Q000473:pathology; D001854:Bone Marrow Cells / Q000276:immunology / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008239:Lysine / Q000378:metabolism*; D008297:Male; D010587:Phagocytosis
chemical_list: D008239:Lysine