Diagnoses and Treatment of IPEX

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The diagnoses of IPEX should be considered in any young male patient presenting with intractable diarrhea, villous atrophy, and failure to thrive. The presence of an erythematous rash, eczema, or psoriasiform dermatitis strongly supports this diagnosis. Early onset of type 1 diabetes in a male patient with gastrointestinal symptoms and eczema is highly suspicious of IPEX. Autoimmune hemolytic anemia, thrombocytopenia, or neutropenia are not always present or may occur at a later age. The diagnoses of IPEX is highly suspect by demonstrating the absence of CD4+ CD25+ FOXP3+ Treg cells and is confirmed by mutation analysis of the FOXP3 gene. If the mutation in a given family is known, carrier females can be identified and prenatal diagnosis performed in a male fetus by sequence analysis of FOXP3 using DNA extracted from chorionic villous biopsies or cultured amniocytes.

It is important to initiate early aggressive therapy including TPN. Red blood cell and platelet transfusions may be necessary. Long-term immunosuppression has proven effective in some patients, but usually only partially and for a limited period. Cyclosporin A or tacrolimus often in combination with steroids has been used with some success. Some patients respond to sirolimus (rapamycin), which seems to be less nephrotoxic. Other immunosuppressive medications, including infliximab and retuximab, have been tried alone or in combination but with limited success. Chronic immunosuppressive therapy may facilitate opportunistic infections and cause secondary renal damage. Hematopoietic stem cell transplantation is currently the only effective cure for IPEX. Some patients have achieved complete remission of symptoms following bone marrow transplantation (Baud et al. 2001; Mazzolari et al. 2005; Rao et al. 2007). Both full and reduced intensity conditioning have been reported to be successful. Generally, the prognosis for patients with IPEX is poor, and if untreated, most die at an early age.

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