Genetic condition awaiting consideration - IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked)
Immunodysregulation, Polyendocrinopaathy and Enteropathy, X-linked (IPEX) is a rare disorder that affects males only, but females may be carriers. This pattern of inheritance is called X-linked recessive, which explains part of the title.
Babies with this condition develop symptoms at or soon after birth and, without symptomatic and supportive treatment, will die by the age of 2 years.
Classically, patients develop a triad of intractable diarrhoea (enteropathy), Type 1 diabetes mellitus (endocrinopathy) and eczema (these problems result from immune dysregulation). The immune dysregulation means that the babies / children develop antibodies to their own organs, which accounts for the diabetes. However, they can also develop problems with the skin, thyroid gland, bone marrow, kidney, joints, spleen and lymph nodes.
The skin problem is usually eczema, but it can also look like a form of psoriasis. Itching is a major problem and difficult to treat. The skin problems may result in the children developing bacterial infections.
The problems with the immune system affect the gut so patients develop intractable watery diarrhoea, which can result in them not being able to absorb food properly. They may also have problems with vomiting.
Treatment is symptomatic and supportive with replacement therapies.
In addition to this, children need to be treated with drugs to suppress the immune system, which also have significant side effects.
The only effective treatment is a bone marrow transplant. This also raises issues related to finding a donor and the complications of bone marrow transplantation.
The immune system requires a mechanism so that it attacks invasions from viruses and bacteria, but does not attack its own cells. The immune system has to recognise the body’s own tissues, which is called self-tolerance.
The genetic problem is a change in a gene called FOXP3. Mutations in this gene mean that cells involved in the process of self-tolerance do not function properly; this is believed to be the primary cause of the underlying autoimmune problem.
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Page last updated: 03 October 2013