What is congenital agammaglobulinemia?

Also known as Bruton’s agammaglobulinemia or congenital agammaglobulinemia, X-linked agammaglobulinemia is an inherited disorder, occurring mainly in boys, in which your child is unable to produce antibodies (the body’s primary defense against bacteria and viruses).

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 happens in agammaglobulinemia?

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.

What is the treatment for agammaglobulinemia?

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.

How is agammaglobulinemia diagnosed?

The diagnosis of XLA can be confirmed by demonstrating the absence of BTK protein in monocytes or platelets or by the detection of a mutation in BTK in DNA. Almost every family has a different mutation in BTK; however, members of the same family usually have the same mutation.

What is SCID disease?

Severe combined immunodeficiency (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Infants with SCID appear healthy at birth but are highly susceptible to severe infections.

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.

What is the difference between agammaglobulinemia and hypogammaglobulinemia?

Any factor that impedes the development of the B cell lineage and/or the function of mature B cells may result in levels of serum immunoglobulins that are reduced (ie, hypogammaglobulinemia) or nearly absent (ie, agammaglobulinemia).

What are the two types of SCID?

Most types of SCID are considered typical SCID, characterized by low or no T cells and a non-functional immune system. The exceptions to typical SCID are leaky SCID and Omenn Syndrome. Leaky SCID occurs when the defect in a gene allows for a normal, or even elevated, T cell count, which harms the immune system.

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.

How do you diagnose agammaglobulinemia?

The first screening test should be an evaluation of serum immunoglobulins. In most patients with agammaglobulinemia, all of the immunoglobulins (IgG, IgM and IgA) are markedly reduced or absent. However, there are exceptions; some patients with XLA make some IgM or IgG.

What are the symptoms of SCID?

What are the symptoms of SCID in a child?

• Pneumonia.
• Repeated ear infections.
• Meningitis.
• Blood infection.
• Chronic skin infections.
• Yeast infections in the mouth and diaper area.
• Diarrhea.
• Liver infection (hepatitis)

How long do SCID patients live?

Severe combined immunodeficiency (SCID) is a syndrome characterized by profound deficiencies in T- and B-lymphocytes and, in some cases, NK cell function. The disease is universally fatal in the first two years of life without immune reconstitution by hematopoietic stem cell transplantation or by gene therapy.

Can a child born today with SCID live?

If your baby has SCID, it’s extremely important to get early treatment. If a baby with SCID is treated within the first few months of life, prior to developing infections, then the baby has a much better chance of being healthy. Without treatment, the baby will die within the first one or two years of life.

Can SCID be cured?

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.

How is SCID detected?

for SCID is done in all states in the United States. A blood spot from a needle prick on a baby’s heel is used to screen for many different conditions. Newborn screening for SCID is done by looking for T cell receptor excision circles (or TRECs for short). TRECs are found in every healthy newborn’s blood.

What is agammaglobulinemia?

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.

What is the pathophysiology of X-linked agammaglobulinemia?

The basic defect in both X-Linked Agammaglobulinemia and autosomal recessive agammaglobulinemia is a failure of B-lymphocyte precursors to mature into B-lymphocytes and ultimately plasma cells. Since they lack the cells that are responsible for producing immunoglobulins, these patients have severe deficiencies of all types of immunoglobulins.

Is agammaglobulinemia autosomal recessive or dominant?

Autosomal recessive agammaglobulinemia has been reported to be due to genes that affect B cell development. X-linked agammaglobulinemia (B-lymphocyte defect) is inherited as an X-linked recessive genetic trait. The abnormal gene, named BTK, has been mapped to gene locus Xq21.3-q22.

What causes agammaglobulinemia with growth hormone deficiency?

A different mutation in the BTK gene causes X-linked agammaglobulinemia with growth hormone deficiency. The genetic cause of ARAG is much more complex involving other genes that have been mapped to loci on different chromosomes: 22q11.21, 14q32.33, and 9q34.13.