IIPEX stands for Immune Dysregulation Polyendocrinopathy Enteropathy X-linked.
IPEX Syndrome is a rare genetic autoimmune disease due to mutations in the FOXP3 gene, located on the X-chromosome.
IPEX Syndrome is classified as a primary immunodeficiency since mutations in the FOXP3 gene lead to absence or dysfunction in a subset of T lymphocytes with regulatory function (Treg).
Affected males present with early onset severe enteropathy usually accompanied by insulin-dependent diabetes (Type 1 ). Elevated serum IgE and dermatitis (with aspects of both eczema and psoriasis) are also present. Other autoimmune symptoms include hypothyroidisms, anemia, thrombocytopenia and neutropenia.
The onset in the severe form of the disease occurs within the first month of life and can be rapidly fatal. Given the severity of the disease and the partial knowledge of the pathogenesis, the current pharmacological therapy still remain of partial efficacy. Immunosuppressive drugs, such as steroids, cyclosporine, tacrolimus and rapamycin, have been most commonly used with no permanent control of the clinical manifestations. The use of allogeneic hematopoietic stem cell (HSC) transplantation has been limited, but, when performed before severe autoimmunity develops, can be an effective cure.
The activity of the Italian Study Group of IPEX is devoted to help physicians in the diagnosis and in the therapeutic choices for affected children, and to study the biological mechanisms leading from the mutations to the disease and to define alternative, more effective therapies.
Part of the activity of the Italian Study Group of IPEX is supported by the Telethon Foundation, Rome.