Abstract
We report an 8-year-old girl with lysimuric 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.
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Abbreviations
- LPI:
-
lysinuric protein intolerance
- SLE:
-
systemic lupus erythematosus
- ANA:
-
antinuclear antibodies
- PHA:
-
phytohaemagglutinin
- Con A:
-
concanavalin A
- ADCC:
-
antibody-dependent cell-mediated cytotoxicity
References
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Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, Schaller JG, Talal N, Winchester RJ (1982) The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 25:1271–1277
Walser M (1983) Urea cycle disorders and other hereditaty hyperammonemic syndromes. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds). The metabolic basis of inherited disease. McGraw-Hill, New York, pp 402–438
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Nagata, M., Suzuki, M., Kawamura, G. et al. Immunological abnormalities in a patient with lysinuric protein intolerance. Eur J Pediatr 146, 427–428 (1987). https://doi.org/10.1007/BF00444955
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DOI: https://doi.org/10.1007/BF00444955