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.

What is Btk deficiency?

A few mutations in the BTK gene have been found to cause isolated growth hormone deficiency type III, a condition characterized by slow growth, short stature, and a weakened immune system. Mutations that cause this condition lead to production of a nonfunctional version of the BTK protein.

Is IgA deficiency X-linked?

Males with X-linked form of agammaglobulinemia have very low levels of IgA, IgG, and IgM antibodies circulating in their blood. Specialized white blood cells (neutrophils) are impaired in their ability to destroy bacteria, viruses, or other invading organisms (microbes).

How common is XLA?

XLA occurs in approximately 1 in 200,000 newborns.

What causes gamma globulin deficiency?

Hypogammaglobulinemia may result from a variety of primary genetic immune system defects, such as common variable immunodeficiency, or it may be caused by secondary effects such as medication, blood cancer, or poor nutrition, or loss of gamma globulins in urine, as in nonselective glomerular proteinuria.

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.

Is Hypogammaglobulinemia a chronic condition?

Symptoms and signs The presenting feature of hypogammaglobulinemia is usually a clinical history of recurrent, chronic, or atypical infections. These infections include but are not limited to: bronchitis, ear infections, meningitis, pneumonia, sinus infections, and skin infections.

What is Brutons?

Introduction. Bruton agammaglobulinemia or X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disorder characterized by the absence of mature B cells, resulting in severe antibody deficiency and recurrent infections.

Is SCID more common in males or females?

XSCID affects only males and is the most common type of SCID. Therefore, the overall incidence of SCID is higher in males than in females.

Is XLA an autoimmune disease?

Although patients with XLA are generally considered to have a low risk of autoimmune or inflammatory disease compared to other PIDD cohorts, data from this patient survey and a national registry indicate that a significant proportion of patients with XLA have symptoms that are consistent with a diagnosis of arthritis.

How is low gamma globulin treated?

Replacement therapy with immunoglobulin G (IgG), administered intravenously (IVIG) or subcutaneously (SCIG), is the treatment of choice for most primary immunodeficiency syndromes where very low immunoglobulin is a feature, including the following: X-linked agammaglobulinemia (Bruton disease; XLA) CVID.

What are symptoms of low gamma globulin?

Which symptoms you or your child has will depend on what infections you get, but they can include:

• coughing.
• sore throat.
• fever.
• ear pain.
• congestion.
• sinus pain.
• diarrhea.
• nausea and vomiting.

What are the defects 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.

What causes a person to have low gamma globulin?

Low gamma globulin or hypogammaglobulinemia is a deficiency of gamma globulin and a deficiency in the formation of antibodies, and it can be caused either by primary antibody deficiency syndromes or by a wide range of existing medical conditions.

How many boys are affected by X-linked gammaglobulinemia?

X -linked a gammaglobulinemia (XLA) is a rare disorder (about 1 in 200,000) in which affected boys lack mature B cells and all antibody isotypes, and thus are unusually susceptible to pyogenic bacterial infections and enteroviral disease.

How is IgA deficiency related to agammaglobulinemia?

IgA deficiency is an antibody deficiency that is related to agammaglobulinemia and is characterized by low levels of IgA in the blood in the presence of normal or increased levels of IgG and IgM. IgA deficiency is the most common primary immunodeficiency.