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Literature DB >> 2443354

Immunological abnormalities in a patient with lysinuric protein intolerance.

M Nagata¹, M Suzuki, G Kawamura, S Kono, N Koda, S Yamaguchi, K Aoki.

Abstract

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.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1987 PMID： 2443354 DOI： 10.1007/bf00444955

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

2 in total

1. Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism.

Authors: J Perheentupa; J K Visakorpi
Journal: Lancet Date: 1965-10-23 Impact factor: 79.321

2. The 1982 revised criteria for the classification of systemic lupus erythematosus.

Authors: E M Tan; A S Cohen; J F Fries; A T Masi; D J McShane; N F Rothfield; J G Schaller; N Talal; R J Winchester
Journal: Arthritis Rheum Date: 1982-11

2 in total

8 in total

Immunological abnormalities in a patient with lysinuric protein intolerance.

1. Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism.

2. The 1982 revised criteria for the classification of systemic lupus erythematosus.

1. B and T cell immunity in patients with lysinuric protein intolerance.

2. Intravenous immune globulin in lysinuric protein intolerance.

3. Necropsy findings in lysinuric protein intolerance.

4. Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance.

5. Lysinuric protein intolerance with thymic hypoplasia.

6. Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

Review 7. Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.

8. A surprising cause of proteinuria: Answers.