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X-linked lymphoproliferative syndrome, in other words, Duncan’s syndrome or Purtilo syndrome – a genetic disease which communicates with immunodeficiency.
The X-linked lymphoproliferative syndrome is a highly rare disease in which the immune system is not working properly. People affected by this disease have an increased risk of developing a severe reaction known as fulminant infectious mononucleosis. Cells of the immune system, due to weakness, it centers of the disease begin to appear in different parts of the body including the liver, spleen, bone marrow or brain.
The symptoms of X-linked lymphoproliferative syndrome
Among the main symptoms may be mentioned:
- high fever,
- enlarged spleen,
- low levels of blood cells, including white blood cells (immune cells), red blood cells (cells carrying oxygen to the tissues of the body) and platelets (cells that help blood clotting)
- abnormal levels of certain chemicals or proteins in the blood,
- inflammation (edema) in the liver, bone marrow and brain.
There are two types of the disease XLP-1 and XLP-2. The first category is combined with infectious Epstein-Barr virus, which causes infectious mononucleosis, very common among children and adolescents. The illness associated with a sore throat, enlarged lymph nodes, fever, and fatigue. Usually, disappears after one to several weeks. People who suffer from XLP-1, in the case of contracting infectious mononucleosis, usually responds to acute form due to weakened immunity.
In the case of type-2 XLP, health problems may also include dangerous reactions to other viruses and pathogens, but it is unclear why this is happening.
Signs of an additional variant of the disease XLP-1 are:
- tumor-immune cell – lymphoma,
- deficiency of antibody in blood – proteins that are necessary for fighting infection,
- damage to the bone marrow that leads to anemia, aplastic anemia,
- swelling of the small blood vessels in the lungs, eyes, brain, and other organs.
X-linked lymphoproliferative syndrome type 2 manifests itself also:
- enlarged spleen (splenomegaly)
- shortages of antibodies in the blood,
- damage to bone marrow, which prevent the production of sufficient blood cells;
- edema of the colon,
- edema of small blood vessels in the lungs, eyes, brain, and other organs.
The causes X-linked lymphoproliferative syndrome
Most human body cells have 46 chromosomes. Chromosomes are composed of DNA made up of genes. Genes, in turn, carry the information for the cells which govern their operation. When genes change and do not work properly, mutations occur.
Typically, each cell has two copies of each chromosome (from 1-22) with a pair of sex chromosomes “X” or “Y”. Women have two chromosomes “X” (one each inherited from the mother and father), the men turn one “X” (inherited from the mother), and the second “Y” (inherited from his father). Because men have only one chromosome “X”, their cells contain only one copy of the genes located on chromosome “X”, however, do not inherit any copies of specific genes “Y” after his father, so it was here appears lymphoproliferative syndrome.
Emerging irregularities in the produced proteins contribute to mutations that weaken the body’s immune system.
The treatment of X-linked lymphoproliferative syndrome
The doctors offer a range of treatments, which kind depends on the cause and severity of symptoms.
X-linked lymphoproliferative syndrome condition is a very complex, so the only way to cure the disease is currently the stem cell transplantation that can replace the malfunctioning immune system. This treatment is also combined with immune suppressive medications, such as steroids or chemotherapy because its purpose is to stabilize the body.