Bone marrow hemophagocytosis and immunological abnormalities in a patient with lysinuric protein intolerance

Gursel T., Kocak U., Tumer L., Hasanoglu A.

ACTA HAEMATOLOGICA, vol.98, no.3, pp.160-162, 1997 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 98 Issue: 3
  • Publication Date: 1997
  • Doi Number: 10.1159/000203612
  • Journal Name: ACTA HAEMATOLOGICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.160-162
  • Keywords: hemophagocytosis, immunological abnormalities, lysinuric protein intolerance, PULMONARY, MANIFESTATIONS
  • Gazi University Affiliated: No

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.