Infants with X-linked agammaglobulinemia start having recurring coughs and/or infections of the nose, ears, skin, sinuses, and lungs at about age 6 months.
Doctors diagnose the disorder by measuring immunoglobulin levels and the number of B cells B cells One of the body's lines of defense ( immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more
.Immune globulin is given throughout life, and antibiotics may be given continuously.
(See also Overview of Immunodeficiency Disorders Overview of Immunodeficiency Disorders Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more .)
Antibodies Antibodies One of the body's lines of defense ( immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more (immunoglobulins) are substances produced by the immune system to help defend the body against infection, cancer, and foreign substances. Antibodies are produced by a type of white blood cell called B cells B cells One of the body's lines of defense ( immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more . Deficiency of one or more types of immunoglobulin increases the risk of serious infection.
X-linked agammaglobulinemia results from a mutation in a gene on the X (sex) chromosome (called an X-linked disorder) X-Linked Inheritance Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more . X-linked disorders usually affect boys.
Symptoms of X-Linked Agammaglobulinemia
For about the first 6 months after birth, immunoglobulins from the mother protect against infection. At about age 6 months, levels of these immunoglobulins start to decrease, and affected infants start having recurring cough, nasal infections (rhinitis), and/or infections of the ears, skin, sinuses, and lungs. The infections are usually due to bacteria such as pneumococci, streptococci, and Haemophilus bacteria. Some unusual viral infections of the brain may develop.
The tonsils are very small, and lymph nodes do not develop because immunoglobulin-producing B cells, which are normally present there, are absent.
X-linked agammaglobulinemia increases the risk of developing infections in the joints (infectious arthritis Infectious Arthritis Infectious arthritis is infection in the fluid and tissues of a joint usually caused by bacteria but occasionally by viruses or fungi. Bacteria, viruses, or fungi may spread through the bloodstream... read more ), irreversible widening due to chronic inflammation of the airways (bronchiectasis Bronchiectasis Bronchiectasis is an irreversible widening (dilation) of portions of the breathing tubes or airways (bronchi) resulting from damage to the airway wall. The most common cause is severe or repeated... read more ), and certain cancers.
With early diagnosis and treatment, life span is often unaffected, unless brain infections develop.
Diagnosis of X-Linked Agammaglobulinemia
Blood tests
Sometimes genetic testing
Blood tests are done to measure immunoglobulin levels and the number of B cells.
Genetic testing may be done to confirm the diagnosis of X-linked agammaglobulinemia but is not usually needed. Testing is recommended for close relatives.
Prenatal genetic screening Prenatal Diagnostic Testing Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more is recommended for people if a mutation that causes X-linked agammaglobulinemia has been identified in their family.
Treatment of X-Linked Agammaglobulinemia
Immune globulin
Antibiotics
Immune globulin (antibodies obtained from the blood of people with a normal immune system) is given throughout life to provide the missing antibodies and thus help prevent infections. Immune globulin may be injected into a vein (intravenously) or under the skin (subcutaneously).
Antibiotics are promptly given to treat bacterial infections and may be given continuously.
People with X-linked agammaglobulinemia are not given vaccines that contain live but weakened organisms (viruses or bacteria). These vaccines include rotavirus vaccines, measles-mumps-rubella vaccine, chickenpox (varicella) vaccine, one type of varicella-zoster (shingles) vaccine, bacille Calmette-Guérin (BCG) vaccine, and influenza vaccine given as a nasal spray.
Despite these measures, chronic sinus and lung infections often develop.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Immune Deficiency Foundation: Agammaglobulinemia: X-Linked and Autosomal Recessive: Comprehensive information on agammaglobulinemia, including information on diagnosis and treatment and advice for people affected
