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We discovered Bailey had XLA when he was 14 months old.  He presented with a Pseudomonas skin infection which made him very ill.  He was transferred from our local hospital to Edinburgh Sick Kids and spent 4 weeks in hospital, much of it in intensive care and high dependency.  We were told the first night he might not make it but thanks to the amazing medics both in Edinburgh & Dumfries, Prof. Andrew Cant in Newcastle, weekly infusions and Bailey's will to fight he is a fit and healthy 14 year old who lives life to the full.
  
Bruton's agammaglobulinemia is a disorder that is present at birth (congenital) and is characterized by low or completely absent levels of immunoglobulins in the bloodstream. Bruton's agammaglobulinemia is also known as X-linked agammaglobulinemia (XLA).

Description

Children with XLA have very low, or completely absent, levels of immumoglobulins in their blood. Immunoglobulins are protein molecules in blood serum that function like antibodies. Without them, the body lacks a fully functioning immune system. Individuals with XLA are vulnerable to repeated, potentially fatal, bacterial infections.

Although persons with XLA carry the genes to produce immunoglobulins, a genetic defect on the X chromosome prevents their formation. This defect is not associated with the immunoglobulins themselves, but rather with the B cells in the bloodstream that ordinarily secrete the immunoglobulins.

B cells are a type of white blood cell. They are the sole producers of immunoglobulins in the body. B cells are produced in the bone marrow and carried to the spleen, lymph nodes, and other organs as they mature. The maturation process depends on an enzyme called Bruton's agammaglobulinemia tyrosine kinase (Btk). If Btk is missing or defective, the B cells cannot mature and cannot produce immunoglobulins.

The gene that controls the production of Btk is on the X chromosome. Certain changes (mutations) in this gene result in defective Btk. Males have one X and one Y chromosome (XY). Females have two X chromosomes (XX). The mother passes one of her two X chromosomes down to her child, and the father passes either an X or a Y chromosome to the child. The mutated gene that produces XLA is a recessive gene. This means that as long as one good copy is present, the disease will not occur. Boys only have one copy of the gene, because they only have one X chromosome. Girls have two copies of the gene. This means that for boys to have XLA they must only inherit one copy of the defective gene, but for girls to have the disease they have to inherit two copies, one from each parent. This is why diseases associated with X linked genes are usually much more common in boys than in girls. To date, no cases of XLA in girls have actually been reported.

Demographics

XLA occurs in one in every 50,000 to one in every 100,000 newborns. Males are overwhelmingly more likely to have it than girls. Children who have an affected relative are more likely to be at risk, because the defect causing the disorder is inherited.

Causes and symptoms

XLA is caused by a defect in the gene that controls the production of the enzyme Btk. This defect blocks B cells from maturing. Only mature B cells produce immunoglobulins. Because other portions of the immune system are functional, people with XLA can fight off some types of infection, such as fungal and most viral infections. Immunoglobulins, however, are vital for combating bacterial infections.

Infants with XLA usually do not show symptoms of the disorder during the first six months of life, because immunoglobulins from their mothers are circulating in their bloodstreams. Over time, their immunoglobulin levels begin to decrease because they cannot successfully produce their own. As the immunoglobulin levels decrease, the baby becomes increasingly vulnerable to bacterial infections.

Common symptoms of immunoglobulin deficiency usually appear after the infant is six months old. They include frequent ear and sinus infections, pneumonia , and gastroenteritis . Certain viruses, such as hepatitis and polio viruses, can also pose a threat. Children with XLA often have small tonsils and lymph nodes and may develop chronic skin infections. Approximately 20 percent of these children develop arthritis, possibly as a result of joint infections.

When to call the doctor

If a child has had many more infections, especially serious infections, than is normal for a child of his or her age there may be an immune system problem such as XLA and a doctor should be consulted.

Diagnosis:

Frequent bacterial infections, a lack of mature B cells, and low-to-nonexistent levels of immunoglobulins point to a diagnosis of XLA. A sample of the child's blood serum can be analyzed for the presence of immunoglobulins by a technique called immunoelectrophoresis. To make a definitive diagnosis, the child's X chromosome is analyzed for defects in the Btk gene. Similar analysis can be used for prenatal diagnosis or to detect carriers of the defective gene.

Treatment:

Treatment of XLA consists of regular intravenous doses of commercially prepared gamma globulin (sold under the trade names Gamimune or Gammagard) to ward off infections. Antibiotics are used to treat infections as they occur. Children with XLA must be treated promptly for even minor cuts and scrapes and taught to avoid crowds and people with active infections.

Prognosis:

Prior to the era of gamma globulin and antibiotic treatment, approximately 90 percent of XLA individuals died before the age of eight. Early diagnosis and therapy in the early 2000s allows most individuals with XLA to reach adulthood and lead relatively normal lives. Infants who develop polio or persistent viral infections, however, have a poorer prognosis.

Primary Immunodeficiency UK (PID UK) is the leading UK organisation providing support to individuals and families in the UK with primary immunodeficiencies. PID UK aim to help ensure that those affected by a primary immunodeficiency have the knowledge needed to manage their condition effectively and to ensure that their health needs are understood and addressed by those involved in policy and delivery of healthcare.

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