Treatment
Patient’s treatment plan
Keran immediately benefited from nutritional support and insulin therapy for his autoimmune diabetes. Glucocorticoids were then quickly started in combination with cyclosporine. Atopic dermatitis, insulin-dependent diabetes mellitus, auto-immune enteropathy and autoimmune haemolytic anaemia improved in the first two months of this treatment.
Four months after initiation of immunosuppressive therapy, diarrhoea and dermatitis reappeared, while hypothyroidism was diagnosed. The indication of hematopoietic stem cells transplantation (HSCT) was then considered. One of Keran’s sisters had identical HLA haplotypes and was used as donor.
Recommended treatments and adjunct therapies
IPEX is a very rare disorder and therapeutic strategies are still based on the experience of sporadic cases reported in the literature.
The first-line of care for IPEX syndrome is immediate supportive treatment to control the different symptomatic manifestations such as parenteral nutrition for enteropathy (a disease of the intestinal tract), replacement therapy for endocrine disorders, antibiotic-prophylaxis to prevent infectious episodes, haemocomponents for cytopenias (a deficiency of a type of blood cells) or intravenous immunoglobulins for chronic diarrhoea-associated hypogammaglobulinemia (an abnormally low concentration of gamma globulin in the blood and increased risk of infection).
Monotherapy or a combination of immunosuppressive molecules only have partial efficacy, but are recommended to primarily control autoimmune disorders. Glucocorticoids (prednisone and methylprednisolone) are commonly used to limit progression of organ damage (Gambineri et al., 2008). Other immunosuppressive drugs may be combined with glucocorticoids to increase efficacy and to decrease steroid doses. Cyclosporine, tacrolimus and azathioprine are classically added to steroids. Rapamycine is another possibility.
These measures aim to control and stabilize all autoimmune disorders, but the only curative treatment is allogenic HSCT, performed as soon as possible (Baud et al., 2001). Transplantation of autologous FOXP3 gene-modified HSC may represent a perspective for the future.
Possible prevention strategies
As an X-linked monogenic disease, the only prevention strategy is to propose neonatal diagnosis to families known to harbour the mutation.
