Immunological abnormalities in a patient with lysinuric protein intolerance.
We report an 8-year-old girl with lysinuric protein intolerance and immunological abnormalities including impaired function of lymphocytes, the presence of LE cells, antinuclear antibodies, and hypergammaglobulinaemia. These abnormalities have not been reported before and may be due to an amino acid imbalance or protein malnutrition in cells or tissues. The coincidence of a pre-stage of systemic lupus erythematosus (SLE) and LPI is not excluded.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000276:immunology*; D000641:Ammonia / Q000097:blood; D000974:Antibodies, Antinuclear / Q000032:analysis*; D002648:Child; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000276:immunology; D007136:Immunoglobulins / Q000032:analysis; D008180:Lupus Erythematosus, Systemic / Q000235:genetics / Q000276:immunology*; D008239:Lysine / Q000652:urine*; D009504:Neutrophils
D000974:Antibodies, Antinuclear; D004044:Dietary Proteins; D007136:Immunoglobulins; D000641:Ammonia; D008239:Lysine