Wiskott Aldrich syndrome

Wiskott-Aldrich syndrome (pronunciation: wisk-ott al-drich) is a rare, often severe disease that affects the immune system. It is named after the two doctors, Dr. Alfred Wiskott and Dr. Robert Aldrich, who first described the condition in the mid-20th century.

Etymology

The syndrome is named after Alfred Wiskott, a German pediatrician who first described the condition in 1937, and Robert Aldrich, an American pediatrician who further defined the syndrome in 1954.

Definition

Wiskott-Aldrich syndrome is a genetic disorder that affects the immune system. It is characterized by abnormal immune system function (immune deficiency), a reduced ability to form blood clots, and eczema.

Symptoms

The symptoms of Wiskott-Aldrich syndrome include thrombocytopenia, which is a decreased number of platelets, the cells needed for blood clotting. This can lead to easy bruising and bleeding. Other symptoms include an increased risk of infections due to the immune system's inability to function properly, and eczema, which is a skin condition that causes red, itchy patches of skin.

Causes

Wiskott-Aldrich syndrome is caused by mutations in the WAS gene. This gene provides instructions for making a protein that is important for the immune system and blood clotting.

Diagnosis

Diagnosis of Wiskott-Aldrich syndrome is based on clinical symptoms, a family history of the disease, and specific laboratory tests. These tests may include blood tests to check for low platelet count and genetic testing to identify mutations in the WAS gene.

Treatment

Treatment for Wiskott-Aldrich syndrome may include medications to manage symptoms, immunoglobulin therapy to boost the immune system, and in severe cases, a stem cell transplant may be necessary.

Related Terms

• Immune system
• Thrombocytopenia
• Eczema
• WAS gene
• Immunoglobulin therapy
• Stem cell transplant

External links

• Medical encyclopedia article on Wiskott Aldrich syndrome
• Wikipedia's article - Wiskott Aldrich syndrome

This WikiMD dictionary article is a stub. You can help make it a full article.

---

Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski