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Primary Immune Deficiency Diseases

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DiGeorge Syndrome

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What is DiGeorge Syndrome?

People with DiGeorge Syndrome have abnormalities in their thymus gland, the organ located in the upper chest where T cells develop. This leads to impairments in T-cell production.

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Causes

Most people with DiGeorge Syndrome have mutations in their chromosome 22 at a position called 22q11.2. These mutations lead to abnormal migration of certain cells during fetal development, which can affect multiple organs.

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Signs and symptoms

Children with DiGeorge Syndrome can exhibit these symptoms:

  • Facial defects, including undeveloped chin, heavy eyelids, and ears that are rotated back
  • Abnormalities in the parathyroid gland, small glands in the neck close to the thyroid, resulting in problems maintaining blood calcium levels, which can lead to seizures
  • Heart defects
  • Thymus gland abnormalities, resulting in T-cell development defects and leading to recurrent infections

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Diagnosis

DiGeorge Syndrome may be suspected at birth in children that display the physical signs and symptoms and also may show up during routine blood tests that reveal low calcium levels. The disease can be confirmed through genetic tests that look for mutations in chromosome 22q11.2.

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Treatment

Treatment for DiGeorge Syndrome varies according to what organs or tissues are affected. Therapy can include these options:

  • Antibiotics to prevent infections
  • Calcium supplements for low blood calcium
  • Corrective surgery or medications for heart defects
  • Bone marrow or thymus transplant to restore T-cell function

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Last Updated October 20, 2010

Last Reviewed October 14, 2010