IPEX
Encyclopedia
IPEX is a rare disease linked to the dysfunction of the transcriptional activator FoxP3
.
It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity
. The disorder manifests with psoriasiform
or eczematous
dermatitis
, nail dystrophy, autoimmune endocrinopathies (overlapping with those seen in APECED syndrome), and autoimmune skin conditions such as alopecia universalis
and bullous pemphigoid
.
This autoimmunity is called IPEX and it is the 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, insulin dependent diabetes, eczema, food allergies
, and infections. There has been limited success in treating the syndrome by bone marrow transplant
ation.
FOXP3
FOXP3 is a protein involved in immune system responses. A member of the FOX protein family, FOXP3 appears to function as a master regulator in the development and function of regulatory T cells....
.
It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity
Autoimmunity
Autoimmunity is the failure of an organism to recognize its own constituent parts as self, which allows an immune response against its own cells and tissues. Any disease that results from such an aberrant immune response is termed an autoimmune disease...
. The disorder manifests with psoriasiform
Psoriasis
Psoriasis is an autoimmune disease that appears on the skin. It occurs when the immune system mistakes the skin cells as a pathogen, and sends out faulty signals that speed up the growth cycle of skin cells. Psoriasis is not contagious. However, psoriasis has been linked to an increased risk of...
or eczematous
Eczema
Eczema is a form of dermatitis, or inflammation of the epidermis . In England, an estimated 5.7 million or about one in every nine people have been diagnosed with the disease by a clinician at some point in their lives.The term eczema is broadly applied to a range of persistent skin conditions...
dermatitis
Dermatitis
-Etymology:Dermatitis derives from Greek derma "skin" + -itis "inflammation" and genetic disorder.-Terminology:There are several different types of dermatitis. The different kinds usually have in common an allergic reaction to specific allergens. The term may describe eczema, which is also called...
, nail dystrophy, autoimmune endocrinopathies (overlapping with those seen in APECED syndrome), and autoimmune skin conditions such as alopecia universalis
Alopecia universalis
Alopecia universalis or alopecia areata universalis is a medical condition involving rapid loss of all hair, including eyebrows and eyelashes. It is the most severe form of alopecia areata, with an incidence of .001%...
and bullous pemphigoid
Bullous pemphigoid
Bullous pemphigoid, also referred to as BP, is an acute or chronic autoimmune skin disease, involving the formation of blisters, more appropriately known as bullae, at the space between the skin layers epidermis and dermis.-Signs and symptoms:...
.
This autoimmunity is called IPEX and it is the attack from the body's own immune system
Immune system
An immune system is a system of biological structures and processes within an organism that protects against disease by identifying and killing pathogens and tumor cells. It detects a wide variety of agents, from viruses to parasitic worms, and needs to distinguish them from the organism's own...
against the body's own tissues and organs. Early age onset of this disease in males causes severe enlargement of the secondary lymphoid organs, insulin dependent diabetes, eczema, food allergies
Food allergy
A food allergy is an adverse immune response to a food protein. They are distinct from other adverse responses to food, such as food intolerance, pharmacological reactions, and toxin-mediated reactions....
, and infections. There has been limited success in treating the syndrome by bone marrow transplant
Bone marrow transplant
Hematopoietic stem cell transplantation is the transplantation of multipotent hematopoietic stem cell or blood, usually derived from bone marrow, peripheral blood stem cells, or umbilical cord blood...
ation.