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

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

ACTA HAEMATOLOGICA, cilt.98, sa.3, ss.160-162, 1997 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 98 Sayı: 3
  • Basım Tarihi: 1997
  • Doi Numarası: 10.1159/000203612
  • Dergi Adı: ACTA HAEMATOLOGICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.160-162
  • Anahtar Kelimeler: hemophagocytosis, immunological abnormalities, lysinuric protein intolerance, PULMONARY, MANIFESTATIONS
  • Gazi Üniversitesi Adresli: Hayır

Özet

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.