IPEX Syndrome is the development of multiple autoimmune disorders
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome
(also known as IPEX Syndrome)
What is IPEX syndrome?
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX)
Syndrome is characterized by the development of Multiple AutoImmune
Disorders in affected individuals. AutoImmune Disorders occur when the
Immune System malfunctions and attacks the body's own tissues and
organs. Although IPEX Syndrome can affect many different areas of the
body, AutoImmune disorders involving the Intestines, Skin, and
Hormone-producing (Endocrine) Glands occur most often. Most patients
with IPEX Syndrome are males, and the disease can be life-threatening in
early childhood.
Almost all individuals with IPEX syndrome develop a disorder of the
Intestines called Enteropathy. Enteropathy occurs when certain cells in
the intestines are destroyed by a person's immune system. It causes
severe diarrhea, which is usually the first symptom of IPEX syndrome.
Enteropathy typically begins in the first few months of life. It can
cause failure to gain weight and grow at the expected rate (failure to
thrive) and general wasting and weight loss (Cachexia).
People with IPEX syndrome frequently develop inflammation of the skin,
called Dermatitis. Eczema is the most common type of dermatitis that
occurs in this syndrome, and it causes abnormal patches of red,
irritated skin. Other skin disorders that cause similar symptoms are
sometimes present in IPEX syndrome.
The term PolyEndoCrinopathy is used in IPEX Syndrome because individuals
can develop multiple disorders of the Endocrine Glands. Type 1 Diabetes
Mellitus is an autoimmune condition involving the pancreas and is the
most common endocrine disorder present in people with IPEX syndrome. It
usually develops within the first few months of life and prevents the
body from properly controlling the amount of sugar in the blood.
AutoImmune Thyroid Disease may also develop in people with IPEX
syndrome. The thyroid gland is a butterfly-shaped organ in the lower
neck that produces hormones. This gland is commonly underactive
(HypoThyroidism) in individuals with this disorder, but may become
overactive (HyperThyroidism).
Individuals with IPEX syndrome typically develop other types of
autoimmune disorders in addition to those that involve the intestines,
skin, and endocrine glands. Autoimmune blood disorders are common; about
half of affected individuals have low levels of red blood cells
(Anemia), platelets (ThromboCytopenia), or white blood cells
(Neutropenia) because these cells are attacked by the immune system. In
some individuals, IPEX syndrome involves the liver and kidneys.
How common is IPEX syndrome?
IPEX syndrome is a rare disorder; its prevalence is unknown.
What genes are related to IPEX syndrome?
Mutations in the FOXP3 gene
http://ghr.nlm.nih.gov/gene=foxp3 cause
some cases of IPEX syndrome. The protein produced from this gene is a
transcription factor, which means that it attaches (binds) to specific
regions of DNA and helps control the activity of particular genes. This
protein is essential for the production and normal function of certain
immune cells called regulatory T cells. Regulatory T cells play an
important role in controlling the immune system and preventing
autoimmune disorders. Mutations in the FOXP3 gene lead to reduced
numbers or a complete absence of regulatory T cells. Without the proper
number of regulatory T cells, the body cannot control immune responses.
Normal body tissues and organs are attacked, causing the multiple
autoimmune disorders present in people with IPEX syndrome.
About half of individuals diagnosed with IPEX syndrome do not have
identified mutations in the FOXP3 gene. In these cases, the cause of the
disorder is unknown.
Read more about the FOXP3 <http://ghr.nlm.nih.gov/gene=foxp3> gene.
http://ghr.nlm.nih.gov/gene=foxp3 How do people inherit IPEX syndrome?
When IPEX syndrome is due to mutations in the FOXP3 gene, it is
inherited in an X-linked recessive pattern. The FOXP3 gene is located on
the X chromosome, which is one of the two sex chromosomes. In males (who
have only one X chromosome), one altered copy of the gene in each cell
is sufficient to cause the condition. In females (who have two X
chromosomes), a mutation must be present in both copies of the gene to
cause the disorder. Males are affected by X-linked recessive disorders
much more frequently than females. A striking characteristic of X-linked
inheritance is that fathers cannot pass X-linked traits to their sons.
Some people have a condition that appears identical to IPEX syndrome,
but they do not have mutations in the FOXP3 gene. The inheritance
pattern for this IPEX-like syndrome is unknown, but females can be affected.
Where can I find information about treatment for IPEX syndrome?
These resources address the management of IPEX syndrome and may include
treatment providers.[/size]
* Gene Review: IPEX Syndrome
Source:http://ghr.nlm.nih.gov/condition=immunedysregulationpolyendocrinopathyenteropathyxlinkedsyndrome
Invisable Illnesses