Syndrome Wiskott - Aldrich syndrome : clinical manifestations

clinical manifestations of the syndrome Wiskott - Aldrich (CBO) in different patients different.

Some patients present all three classic manifestations, including low platelets and bleeding, immunodeficiency and infection, and eczema.

In other patients, only a decrease in the number of platelets (thrombocytopenia) and bleeding.In recent years, patients who presented with just low platelet counts were diagnosed with other diseases - X-linked thrombocytopenia (XLT).

After identifying ITS gene was clear that when the CBO thrombocytopenia and X-CT caused by a mutation of the same gene, and these diseases represent a different clinical forms of the same violation.The first clinical manifestation of NWO may occur shortly after birth or in the first year of life.

These early clinical signs are directly related to any or all components of the classical clinical triad of bleeding due to low platelet count, itchy, scaly skin rashes and eczema and / or infections because of immune disorders.

Increased bleeding

Reducing the number of small platelets (thrombocytopenia) - a characteristic feature of all patients with SVR.Since the CBO is the only disorder in which small platelets are found, their detection in blood is a valuable test for the diagnosis of this disease.

Intradermal bleeding caused by thrombocytopenia, can cause the formation of a bluish-red spots the size of a pinhead, called petechiae, or larger spots that resemble bruises.In patients boys may also be blood in the stool (especially in the first year of life), bleeding from the gums, and prolonged nose bleeds.

Bleeding in the brain - a dangerous complication and some physicians recommend that toddlers with very low platelet counts (less than 15,000) wear a helmet to protect against head injuries until treatment does not increase the number of platelets in their blood.

Infections Due to a profound deficiency of T- and B-lymphocytes, in the classic NWO frequent infections that can be caused by any species of microorganisms.Such infections are infections of the upper respiratory tract and bronchi, otitis media, sinusitis and pneumonia.More severe infections such as sepsis (infection of circulating blood or blood poisoning), meningitis and severe viral infections are less common.

Infrequently, patients with classic NWO may develop pneumonia caused by Pneumocystis jiroveci (carinii).

skin can also be infected with various bacteria as a result of intense scratching areas affected by eczema.When CBO also frequently observed viral infection of the skin called molluscum contagiosum.

Eczema Eczema is often seen in classic NWO.In the first year of life, the eczema may resemble seborrheic dermatitis, severe diaper rash, or be generalized and affect the skin of the whole body and / or limbs.

Boys older eczema may be limited to the skin folds in the elbow, around the wrists and neck, as well as under the knee joints, in other cases, eczema can affect a significant portion of the skin surface.

Since eczema is extremely itchy, affected boys often scratch themselves until they bleed scratching, even at night.In extreme cases, the eczema may cause so much reddened skin inflammation that the boys radiate heat into the environment and have difficulty maintaining normal thermoregulation.In some patients eczema may be missing or mild.

Autoimmune manifestations

In infants and in adults with autoimmune-NWO often observed symptoms.The term "autoimmunity" refers to conditions arising as a result of dysregulation of the immune system, in which it destroys the patient's own body tissue.

Among the most common autoimmune manifestations in patients with SMA - inflammation of blood vessels (vasculitis), accompanied by fever and rash on the limbs;Sometimes these symptoms are worse after physical exertion.

Another autoimmune disorder is anemia caused by antibodies that destroy its own red blood cells of the patient (hemolytic anemia).

Reducing the number of platelets can be enhanced autoimmune reaction in which the patient develops antibodies that attack the remaining platelets (this condition is commonly called ITP or idiopathic thrombocytopenic purpura).

Some patients have a more generalized disorder in which there may be high fevers in the absence of infection, swelling of the joints, painful lymph nodes, and gastrointestinal disturbances such as diarrhea.

In some cases, the inflammation of arteries (vasculitis), mainly in the muscles, heart, brain and other internal organs, which causes many symptoms.These autoimmune episodes
only a few days or may occur in waves last for years and be difficult to treat.


In young children, adolescents and adults with CBO, can develop malignant tumors.Many of these affect B cells and cause leukemia or lymphoma.

Article courtesy of a worldwide organization IPOPI, working to improve the lives of people with primary immunodeficiency.
Copyright 2007 owned fund Immune Deficiency Foundation, USA."Guidelines for the primary immunodeficiency diseases for patients and their families", from which the material is taken under the license, was developed Immune Deficiency Foundation with support from Baxter Healthcare Corporation.

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