Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.
BACKGROUND
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder is an autoimmune disease caused by loss-of-function 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 extent.


METHODS
Three 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 disorder.


CONCLUSIONS
We 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 membranous-like pattern and/or interstitial nephritis.
Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, 02215, USA, ysheykin@bidmc.harvard.edu.
Yuri
Y
Sheikine
Craig B
CB
Woda
Pui Y
PY
Lee
Talal A
TA
Chatila
Sevgi
S
Keles
Louis-Marie
LM
Charbonnier
Birgitta
B
Schmidt
Seymour
S
Rosen
Nancy M
NM
Rodig
D000293:Adolescent; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D017809:Fatal Outcome; D051858:Forkhead Transcription Factors / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics; D012867:Skin / Q000473:pathology; D033581:Stem Cell Transplantation; D013577:Syndrome; D050378:T-Lymphocytes, Regulatory / Q000276:immunology
C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors