Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome's disease overview

Wiskott-Aldrich syndrome (WAS) is a rare genetic immunodeficiency that can be fatal in humans. The characteristics of the person with this syndrome manifests itself as a decline in the function of T and B lymphocytes while the number of this cell population is still normal. Patients with this serious combined immunodeficiency are often very sensitive to many pathogens such as bacteria, viruses, fungi and protozoa. Over time, the function of these cells is getting worse and worse; IGM concentration usually decreases while the IgG remains at normal levels and IgA and IgE increases. This syndrome is also related to thrombocytopenia, subcutaneous hemorrhage in eczema, the possibility of other diseases or some types of cancer due to the immune system decline. This boy with this condition often has very severe eczema and subcutaneous hemorrhage (due to the defect of quantity and platelet function). Children are often very susceptible to pus infections.

Most cases of Wiskott-Acrich syndrome are men. It is estimated that the incidence of this syndrome is about 10 children per 1 million boys. Girls with an abnormal gene of this syndrome are often not affected but will be inherited to the next generation.

Diagnosis of Wiskott-Adlrich syndrome often relies on counting T-cells and B cells as well as quantifying immune globulin in the blood. According to medical documents, patients with Wiskott-Adlrich syndrome usually do not live more than 5 years. After this time, the immune system of the patient often weakens quickly, the babies gradually depleted and died from infections. If left untreated, most patients cannot live more than 15 years old, but there are some cases that can live to adulthood

Causes of Wiskott-Aldrich syndrome's disease

The WAS syndrome occurs due to mutations or loses genes on X chromosomes with codes of Wiskott-AlDrich Syndrome Protein (WASP). Protein WAS plays an important role in transmitting signals and blood cells (structures) of T and B. The mutations in the WASP gene may vary between individuals, leading to some People with complete clinical symptoms of the syndrome, others have only one or several symptoms.

Symptoms of Wiskott-Aldrich syndrome's disease

The diagnosis of the Wiskott-Acrich syndrome is based on clinical and subclinical symptoms as follows:

Clinical symptoms:

Common clinical symptoms of Wiskott-Acrich syndrome include:

Hemorrhagic syndrome: The decline in both the number and platelet function causes the situation of very severe eczema and arrest (bruising) bleeding under the skin. In addition, there are cases of severe bleeding, the disease may have signs of bleeding in many places such as nose bleeding, mouth, urine, internal bleeding, even intracranial bleeding, leading to blood loss threatening properties network.

Patients with Wiskott-Acrich syndrome often have an increase in IgE levels and are prone to allergies.

Immunodes can affect the function of B and T lymphocytes increases the risk and frequency of pus infections such as ear infections, pneumonia, Skin infection, herpes infection.

Wiskott-Aldrich syndrome can cause a number of immune-related diseases such as vasculitis, arthritis and kidney. This syndrome can also cause malignant tumors such as leukemia and lymphoma b.

Subclinical

Blood formula test shows:

The number and platelet concentration of severe platelets; There are also some cases where normal platelets but platelets are still very poor

Number of neutrophils decreases; The number of lymphocytes may be low but most cases have normal numbers

Quantification of immune globulin see: IGM concentration decreases; IgG is normal; Iga and Ige have increased.

Diagnostic diagnosis of the syndrome when testing DNA shows the presence of genetic mutations that are inherited to chromosomes X.

Prevention of Wiskott-Aldrich syndrome's disease

Patients should try to create some living habits as follows to limit the progress of this syndrome:

There is an appropriate diet, avoiding allergens such as milk, eggs, beans or nuts (depending on the location).

There is a reasonable physical activity regime, but pay attention to limiting participation in sports at high risk of injury, especially against antagonistic sports. .

Children who are practicing, leaving to be toddler so there are insurance tools such as helmets, elbow protection, knees, ankles ... to avoid damage, especially trauma first love.

Wiskott-Aldrich syndrome's disease treatments

Symptomatic treatment

Use antibiotics for treatment and prevent infection

Use corticosteroids to treat the patient's all -conditioning condition

platelet -rich plasma or spleen to treat hemorrhage due to platelets caused by

Specific treatment

The most common treatment is the use of bone marrow transplant or stem cell transplantation from a suitable person, usually from siblings or relatives. Patients with appropriate relatives have a successful transplant rate up to 80%. Cases of random organ transplants often have less success rates and are susceptible to complications if the organs are not commensurate. The stem cell transplant should be done as young as the results will be better.

Before transplantation or if the transplant is not an option, children with syndrome may need specific treatment for immunodeficiency and bleeding problems, including:

Antibiotic Prevention (trimethoprim-sulfamethoxazole or biseptol) daily to prevent pneumatic infections due to Pneumocystis infections;

Backup with aciclovir® to prevent herpes infection;

additional immune globulin injection when there is abnormalities in the function of lymphocyt cells B;

Patients should avoid non -steroid anti -inflammatory drugs (ibuprofen, diclofenac, aspirin and others).

Genetic therapy for Wiskott-Acrich syndrome is still in the process of testing, applying to cases where patients are not suitable. Scientists take the patient's original blood cell and use gene transfer is a lentivirus in combination with normal WASP genes to repair blood defects in the laboratory. After a special treatment to remove the defect immune system, patients who receive blood cells have been transformed to contain their normal Wasp genes. After about 20 - 30 months, new blood cells are carried with normal Wasp genes.

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