What causes X-linked agammaglobulinemia?
X-linked agammaglobulinemia is caused by a genetic mutation. People with the condition can’t produce antibodies that fight infection. About 40% of people with the condition have a family member who has it.
What is Bruton syndrome?
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.
How is XLA treated?
Medications to treat XLA include:
- Gammaglobulin. This is a type of protein found in blood that contains antibodies against infections. It’s given by infusion into a vein every two to four weeks or by weekly injection.
- Antibiotics. Some people with XLA receive continuous antibiotics to prevent infections.
What causes XLA?
Frequently called Bruton’s Agammaglobulinemia, XLA is caused by a genetic mistake in a gene called Bruton’s tyrosine kinase (BTK), which prevents B cells from developing normally. B cells are responsible for producing the antibodies that the immune system relies on to fight off infection.
What is isolation IgA deficiency?
Overview. Selective IgA deficiency is an immune system condition in which you lack or don’t have enough immunoglobulin A ( IgA ), a protein that fights infection (antibody). Most people with selective IgA deficiency don’t have recurrent infections.
What is X linked agammaglobulinemia (XLA)?
Summary. X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen.
What are the signs and symptoms of X-linked agammaglobulinemia (XLA)?
Male infants with X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, may appear physically smaller than male infants without XLA because of delayed growth and development from recurrent infections.
What is the treatment for X-linked 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 XFX-linked agammaglobulinema?
X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections).