Intravenous immune globulin in lysinuric protein intolerance.
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.
Dionisi-Vici
C
C
Department of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
De Felice
L
L
el Hachem
M
M
Bottero
S
S
Rizzo
C
C
Paoloni
A
A
Goffredo
B
B
Sabetta
G
G
Caniglia
M
M
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*
D016756:Immunoglobulins, Intravenous; D001120:Arginine; D009952:Ornithine; D008239:Lysine