X-linked agammaglobulinemia (XLA) is an inborn error of immune function that can cause life-threatening infections and chronic lung disease such as bronchiectasis. Delays in diagnosis are detrimental to the prognosis and quality of life of patients.

How does agammaglobulinemia affect the body?

X-linked agammaglobulinemia (a-gam-uh-glob-u-lih-NEE-me-uh) — also called XLA — is an inherited (genetic) immune system disorder that reduces your ability to fight infections. People with XLA might get infections of the inner ear, sinuses, respiratory tract, bloodstream and internal organs.

Is agammaglobulinemia fatal?

B cells are part of the immune system and normally manufacture antibodies (also called immunoglobulins), which defend the body from infections by sustaining a humoral immunity response. Patients with untreated XLA are prone to develop serious and even fatal infections.

Is agammaglobulinemia a disease?

Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. Antibodies are proteins (immunoglobulins, (IgM), (IgG) etc) that are critical and key components of the immune system.

How is agammaglobulinemia treated?

Because a patient with agammaglobulinemia is unable to produce specific antibodies, the primary medical treatment is to replace immunoglobulin (Ig). Aggressive treatment with antibiotics for bacterial infections may prevent long-term complications.

Bruton's X linked agammaglobulinemia

How long do people with XLA live?

Mortality/morbidity. Most men with X-linked agammaglobulinemia (XLA) live into their 40s. The prognosis is better if treatment is started early, ideally if intravenous immunoglobulin G (IVIG) is started before the individual is aged 5 years.

How is agammaglobulinemia diagnosed?

Your doctor will take a medical history to document recurrent infections and do a physical exam. He or she will order blood tests and possibly recommend genetic testing to confirm the diagnosis.

How common is agammaglobulinemia?

Agammaglobulinemia occurs in approximately 1 in 250,000 males in the United States. In a study of serum Ig levels in 2000 consecutive patients in Saudi Arabia, agammaglobulinemia was diagnosed at a rate of 250 cases per 100,000 individuals.

Is SCID curable?

The only cure currently and routinely available for SCID is bone marrow transplant, which provides a new immune system to the patient. Gene therapy treatment of SCID has also been successful in clinical trials, but not without complications.

What is the difference between agammaglobulinemia and Hypogammaglobulinemia?

"Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "X-linked agammaglobulinemia") it implies that gamma globulins are not merely reduced, but completely absent.

Why do people with agammaglobulinemia have more trouble fighting bacterial infections than viral infections?

In X-linked agammaglobulinemia, there is a failure of pre-B-lymphocytes to mature into B-lymphocytes (mature B-lymphocytes produce antibodies). As a result, there are no antibodies produced, and the child's body is unable to fight off bacterial infections and some viral infections.

What is the cause of agammaglobulinemia?

It is caused by a gene defect that blocks the growth of normal, mature immune cells called B lymphocytes. As a result, the body makes very little (if any) immunoglobulins. Immunoglobulins play a major role in the immune response, which protects against illness and infection.

What is Bruton's disease?

Bruton agammaglobulinemia, also known as X-linked agammaglobulinemia (XLA) or Bruton's agammaglobulinemia, is an inherited immunodeficiency disorder. It is characterized by the absence of mature B cells which in turn leads to severe antibody deficiency and recurrent infections.

What is Hyper IgM Syndrome?

Hyper IgM syndromes are a group of rare disorders in which the immune system does not function properly. They are classified as rare primary immunodeficiency disorders, which are a group of disorders characterized by irregularities in the cell development and/or cell maturation process of the immune system.

Is immunodeficiency the same as immunocompromised?

When your immune system fails to respond adequately to infection, it's called an immunodeficiency, and you may be immunocompromised. People may also suffer from the opposite condition, an overactive immune system that attacks healthy cells as though they were foreign bodies, and that is called an autoimmune response.

Can Hypogammaglobulinemia go away?

The infections will often stop by their first birthday. Immunoglobulin usually reaches normal levels by age four. Catching this condition early and getting on antibiotics or immune globulin treatment can limit infections, prevent complications, and improve your life expectancy.

What is the best treatment for SCID?

Nearly every child with SCID is treated with a stem cell transplant, also known as a bone marrow transplant. This is the only available treatment option that has a chance of providing a permanent cure. The bone marrow cells or stem cells are administered through an IV, similar to a blood transfusion.

Who is most at risk for SCID?

Affected Populations

All types of SCID are very rare disorders that occur in approximately 1 or fewer births in 100,000 in the United States. SCID may be more common in people with Navajo, Apache, or Turkish ancestry.

Is SCID autosomal dominant or recessive?

Most often, SCID is inherited in an autosomal recessive pattern, in which both copies of a particular gene—one inherited from the mother and one from the father—contain defects.

How is common variable immunodeficiency diagnosed?

The diagnosis of CVID is primarily established by testing for low blood (serum) IgG immunoglobulin concentrations ranging from severely reduced (<100 mg/dL) to just below adult normal range (500-1200 mg/dL). In addition, laboratory testing may reveal normal or, in some cases, reduced numbers of circulating B cells.

What gene is affected by agammaglobulinemia?

X-linked agammaglobulinemia is caused by changes ( mutations ) in the BTK gene and is inherited in an X-linked recessive manner. Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG).

What is the treatment for CVID?

CVID is treated with immunoglobulin replacement therapy (IRT), which most often relieves symptoms. IRT treatments must be given regularly and are life-long. Antibiotics are used to treat most infections that result from CVID though patients may need treatment for a longer duration than a healthy individual.

Why do people lack tonsils?

Reasons you might have your tonsils removed as an adult include: Chronic throat infection, which is the most common reason. Adults who have the surgery typically have had several sore throats over the past 1 to 3 years or have had a sore throat and swollen tonsils caused by infection for at least 3 months.

What is transient hypogammaglobulinemia of infancy?

Introduction. Transient hypogammaglobulinemia of infancy (THI) is a primary immunodeficiency caused by a transitory drop of the levels of immunoglobulin G (IgG) in an infant beginning between 5 and 24 months of age. Levels typically return to reference range at ages 2 to 6 years.