Abstract

IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage. It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity. The disorder manifests with autoimmune enteropathy, psoriasiform or eczematous dermatitis, nail dystrophy, autoimmune endocrinopathies, and autoimmune skin conditions such as alopecia universalis and bullous pemphigoid.

Management for immunodysregulation polyendocrinopathy enteropathy X-linked syndrome has seen limited success in treating the syndrome by bone marrow transplantation.

Symptoms and signs

Some of the symptoms and signs of IPEX syndrome are the following:

Genetics

Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is inherited in males via an x-linked recessive manner. Apparently the FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of this condition.

Mechanism

This autoimmunity called IPEX is an attack from the body's own immune system against the body's own tissues and organs. Early age onset of this disease in males causes severe enlargement of the secondary lymphoid organs, and insulin dependent diabetes

This condition indicates the loss of CD4+CD25+ T regulatory cells, and express the transcription factor Foxp3. Foxp3 decrease is a consequence of unchecked T cell activation, which is secondary to loss of "regulatory T cells".

Diagnosis

The diagnosis of immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is consistent with the following criteria:

- Clinical examination

- Family history

- Laboratory findings

- Genetic testing

Treatment

In terms of treatment the following are done to manage the IPEX syndrome in those affected individuals(corticosteroids are the first treatment that is used):

- TPN(nutritional purpose)

- Cyclosporin A and FK506

- Sirolimus(should FK506 prove non-effective)

- Granulocyte colony stimulating factor

- Bone marrow transplant

- Rituximab