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Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis


Autoimmune lymphoproliferative syndrome (ALPS) is characterized clinically by chronic non-malignant lymphoproliferation and autoimmunity and is caused by a genetic defect in programmed cell death (apoptosis). Most patients with ALPS have heterozygous mutations in the Fas gene. We describe an 11-year-old Brazilian boy with hepatosplenomegaly, lymphadenopathy, hemolytic anemia, and hypergammaglobulinemia since early infancy. T cell lines from the patient were defective in Fas-mediated apoptosis. He was diagnosed as having ALPS and found to have a novel Fas gene mutation (IVS4+1G>A). In addition, he presented with glomerulonephritis in infancy. An aunt and uncle who had the same Fas mutations also had histories of glomerulonephritis. Although glomerulonephritis is common in Fas-deficient mice, it is infrequent in human ALPS. Corticosteroid therapy ameliorated the glomerulonephritis in our patient, as well as his lymphoproliferation, anemia, and hypergammaglobulinemia. This study suggests that glomerulonephritis is one of the characteristic features of ALPS.

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We are grateful to Mr. Hitoshi Moriuchi and Ms. Chikako Sakai for technical assistance. This study was supported by grants from the Japan International Cooperation Agency, the Ministry of Education, Culture, Sports, Science, and Technology of Japan, the Ministry of Health, Labour, and Welfare of Japan, the Naito Foundation, and The Mother and Child Health Foundation.

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Correspondence to Hirokazu Kanegane.

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Kanegane, H., Vilela, M.M.S., Wang, Y. et al. Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis. Pediatr Nephrol 18, 454–456 (2003).

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  • Autoimmune lymphoproliferative syndrome
  • Fas
  • Apoptosis
  • Glomerulonephritis
  • Brazil