Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis

dc.creatorKanegane, H
dc.creatorVilela, MMD
dc.creatorWang, Y
dc.creatorFutatani, T
dc.creatorMatsukura, H
dc.creatorMiyawaki, T
dc.date2003
dc.dateMAY
dc.date2014-11-17T04:21:36Z
dc.date2015-11-26T16:41:22Z
dc.date2014-11-17T04:21:36Z
dc.date2015-11-26T16:41:22Z
dc.date.accessioned2018-03-28T23:25:35Z
dc.date.available2018-03-28T23:25:35Z
dc.identifierPediatric Nephrology. Springer-verlag, v. 18, n. 5, n. 454, n. 456, 2003.
dc.identifier0931-041X
dc.identifierWOS:000183186600011
dc.identifier10.1007/s00467-003-1087-3
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/55199
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/55199
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/55199
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1272917
dc.descriptionAutoimmune 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.
dc.description18
dc.description5
dc.description454
dc.description456
dc.languageen
dc.publisherSpringer-verlag
dc.publisherNew York
dc.publisherEUA
dc.relationPediatric Nephrology
dc.relationPediatr. Nephrol.
dc.rightsfechado
dc.rightshttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dc.sourceWeb of Science
dc.subjectautoimmune lymphoproliferative syndrome
dc.subjectFas
dc.subjectapoptosis
dc.subjectglomerulonephritis
dc.subjectBrazil
dc.subjectSystemic-lupus-erythematosus
dc.subjectFas
dc.subjectMutations
dc.subjectApoptosis
dc.subjectLymphocyte
dc.subjectSpectrum
dc.subjectDisease
dc.titleAutoimmune lymphoproliferative syndrome presenting with glomerulonephritis
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución