Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome

Lucas, Kenneth G.; Ungar, David; Comito, Melanie; Bayerl, Michael G.; Groh, Brandt

doi:10.1038/sj.bmt.1705542

Cited by 47 publications

(24 citation statements)

References 11 publications

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“…Aggressive immune suppressive therapy has been shown to prolong life, but it poses a risk of opportunistic infections and the long-term toxicity of immune suppressive medications [19]. HSCT has been shown to be beneficial in a few reported cases of children with IPEX syndrome and can result in the reversal of the autoimmune manifestations of the disease [7,20,21]. Our child had mild residual hypothyroidism and IDDM after transplantation, indicating that some irreversible organ damage may have occurred prior to HSCT.…”

Section: Discussionmentioning

confidence: 70%

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy

et al. 2007

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We report on a 6-month-old child presenting with chronic diarrhea, failure to thrive, eczema, autoimmune hemolytic anemia (AIHA), insulin-dependent diabetes mellitus (IDDM), hypoalbuminemia, and proteinuria. Renal biopsy showed membranous glomerulonephritis. A diagnosis of Immunodysregulation, polyendocrinopathy, enteropathy, x-linked (IPEX) syndrome was subsequently confirmed by DNA analysis, which demonstrated the presence of a mutation in exon 2 of the FOXP3 gene (303-304 del TT). Proteinuria secondary to membranous glomerulonephritis is a novel feature of IPEX syndrome. Membranous glomerulonephritis went into remission after the patient had received hematopoietic stem cell transplantation (HSCT).

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