Authors: Yuri Sheikine Craig B Woda Pui Y Lee Talal A Chatila Sevgi Keles LouisMarie Charbonnier Birgitta Schmidt Seymour Rosen Nancy M Rodig
Publish Date: 2015/04/25
Volume: 30, Issue: 7, Pages: 1197-1202
Abstract
Immunodysregulation polyendocrinopathy enteropathy Xlinked IPEX disorder is an autoimmune disease caused by lossoffunction mutations in the gene encoding the forkhead box P3 FOXP3 transcription factor These mutations affect the normal function of circulating regulatory T cells IPEX is characterized by profound immune dysregulation leading to dermatitis enteropathy multiple endocrinopathies and failure to thrive Different forms of renal injury have also been noted in these patients but these have been described to a very limited extentThree patients with IPEX with characteristic renal findings and mutations in FOXP3 including one novel mutation are described Case presentations are followed by a review of the renal manifestations noted in IPEX and the range of therapeutic options for this disorderWe recommend that IPEX be considered in the differential diagnosis of young children who present with signs of immune dysregulation with a concomitant renal biopsy demonstrating immune complex deposition in a membranouslike pattern and/or interstitial nephritisSkin biopsy findings in case 1 a b Hematoxylin/eosinstained images showing low power and high power view respectively of lichenoid dermatitis with focal interface activity Involvement of hair follicles and other adnexal structures is shown c Immunofluorescence shows immunoglobulin G deposition along the epidermal basement membrane GIF 312 kbElectron microscopic studies on patient 2 a First biopsy showed practically no electrondense deposits open capillary loops and no extracapillary proliferation However the glomerular basement membrane was thickened and lamellated arrow which given the clinical circumstances was consistent with reparative changes related to previous electrondense deposits b Biopsy 3 years later shows electrondense deposits arrows GIF 230 kb
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