title: Intravenous immune globulin in lysinuric protein intolerance.
abstract: In addition to systemic manifestations with skeletal, pulmonary, renal, and haematological signs, lysinuric protein intolerance (LPI), a membrane transport defect of cationic amino acids, is often complicated by severe life-threatening immunological manifestations. A 10-year-old boy with LPI who exhibited a severe systemic immunohaematological disease is described here. This patient showed cutaneous lesions similar to the subacute form of systemic lupus erythematosus, severe anaemia and dysproteinaemia, and a marked reduction of circulating T lymphocytes, mainly the CD4+ cells. In vitro bone marrow cell culture studies showed that addition of patient's serum induced macrophage proliferation and inhibited erythroid progenitor cell growth. Treatment with high-dose intravenous immune globulin resolved most of the clinical and laboratory abnormalities.
authors.affiliation: Department of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: L
authors.initials: L
authors.lastname: De Felice
authors.forename: M
authors.initials: M
authors.lastname: el Hachem
authors.forename: S
authors.initials: S
authors.lastname: Bottero
authors.forename: C
authors.initials: C
authors.lastname: Rizzo
authors.forename: A
authors.initials: A
authors.lastname: Paoloni
authors.forename: B
authors.initials: B
authors.lastname: Goffredo
authors.forename: G
authors.initials: G
authors.lastname: Sabetta
authors.forename: M
authors.initials: M
authors.lastname: Caniglia
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000276:immunology / Q000628:therapy*; D001120:Arginine / Q000378:metabolism*; D002648:Child; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use*; D008239:Lysine / Q000378:metabolism*; D008297:Male; D009952:Ornithine / Q000378:metabolism*
chemical_list: D016756:Immunoglobulins, Intravenous; D001120:Arginine; D009952:Ornithine; D008239:Lysine