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DiGeorge Syndrome

By

James Fernandez

, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University

Last full review/revision Apr 2021| Content last modified Apr 2021
Click here for the Professional Version
Topic Resources

DiGeorge syndrome is a congenital immunodeficiency disorder in which the thymus gland is absent or underdeveloped at birth.

  • Children with DiGeorge syndrome are born with several abnormalities, including heart defects, underdeveloped or absent parathyroid glands, an underdeveloped or absent thymus gland, and characteristic facial features.

  • Doctors do blood tests, take a chest x-ray to look for and evaluate the thymus gland, and usually do echocardiography to check for heart defects.

  • If children have no T cells, transplantation of thymus tissue or stem cells is necessary to preserve life.

The fetus does not develop normally, and abnormalities often occur in the following:

The prognosis usually depends on the severity of the heart disorder.

Diagnosis of DiGeorge Syndrome

  • Blood tests

  • Sometimes imaging tests (such as chest x-rays and echocardiography)

Doctors suspect DiGeorge syndrome based on symptoms.

Blood tests are done for the following reasons:

  • To determine the total number of blood cells and the number of T and B cells

  • To evaluate how well T cells and the parathyroid gland are functioning

  • To determine how well the body produces immunoglobulins in response to vaccines

A chest x-ray may be taken to check the size of the thymus gland.

Because DiGeorge syndrome often affects the heart, echocardiography Echocardiography and Other Ultrasound Procedures Ultrasonography uses high-frequency (ultrasound) waves bounced off internal structures to produce a moving image. It uses no x-rays. Ultrasonography of the heart (echocardiography) is one of... read more Echocardiography and Other Ultrasound Procedures is usually done. Echocardiography uses high-frequency sound (ultrasound) waves to produce images of the heart and thus can detect abnormalities in the heart's structure, such as a birth defect.

Genetic tests may be done to look for abnormalities.

Treatment of DiGeorge Syndrome

  • Calcium and vitamin D supplements

  • Sometimes transplantation of thymus tissue or stem cells

For children who have some T cells, the immune system may function adequately without treatment. Infections that develop are treated promptly. Calcium and vitamin D supplements are given by mouth to prevent muscle spasms.

For children who have no T cells, the disorder is fatal unless transplantation of thymus tissue is done. Such transplantation can cure the immunodeficiency. Before the thymus tissue is transplanted, it is placed in a culture dish and treated to eliminate mature T cells. These cells may identify the recipient’s tissue as foreign and attack it, causing graft-versus-host disease Graft-versus-host disease Transfusions are given to increase the blood's ability to carry oxygen, restore the amount of blood in the body (blood volume), and correct clotting problems. Transfusions are usually safe,... read more . Alternatively, stem cell transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more may be done.

Sometimes the heart disease is worse than the immunodeficiency, and surgery to prevent severe heart failure or death may be needed.

More Information about DiGeorge Syndrome

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

NOTE: This is the Consumer Version. DOCTORS: Click here for the Professional Version
Click here for the Professional Version
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