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 exh...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 1998-04, Vol.21 (2), p.95-102
Main Authors: Dionisi‐Vici, C., De Felice, L., El Hachem, M., Bottero, S., Rizzo, C., Paoloni, A., Goffredo, B., Sabetta, G., Caniglia, M.
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - immunology
Amino Acid Metabolism, Inborn Errors - therapy
Aminoacid disorders
Arginine - metabolism
Biological and medical sciences
Child
Errors of metabolism
Humans
Immunoglobulins, Intravenous - therapeutic use
Lysine - metabolism
Male
Medical sciences
Metabolic diseases
Ornithine - metabolism
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Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005383307100