X-Linked Agammaglobulinemia (2024)

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FAQs

What happens in X-linked agammaglobulinemia? ›

X-linked agammaglobulinemia or XLA is a primary immunodeficiency disorder that prevents affected individuals from making antibodies and requires them to rely on lifelong immunoglobulin replacement therapy for survival. Without immunoglobulins (or antibodies), XLA patients are rendered vulnerable to invasive infections.

How rare is X-linked agammaglobulinemia? ›

X-linked agammaglobulinemia is rare. It's more common in babies and kids AMAB. Approximately 1 in 200,000 male babies are born with XLA.

Can girls get XLA? ›

XLA almost always affects males. But females can carry the genes linked to the condition. Most people with XLA are diagnosed in infancy or early childhood, after they've had repeated infections. Some people aren't diagnosed until they're adults.

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What is the life expectancy of someone with X-linked agammaglobulinemia? ›

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.

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Does agammaglobulinemia have a cure? ›

There's no cure for XLA .

What is the main concern for patients with X-linked agammaglobulinemia? ›

The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage.

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Is agammaglobulinemia serious? ›

Agammaglobulinemia or hypogammaglobulinemia is a rare inherited immunodeficiency disorder. It is characterized by low or absent mature B cells, which can result in severe antibody deficiency and recurrent infections.

What age is X-linked agammaglobulinemia diagnosed? ›

The symptoms of X-linked agammaglobulinemia usually become apparent in the first 6 to 9 months of age, but can present as late as 3 to 5 years of age.

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What is the survival rate for XLA patients? ›

Post diagnosis survival was estimated as 78% for the first five years (Fig. 2). The survival rate was not shown to be influenced by delayed diagnosis, type of complications, serum levels of immunoglobulin and lymphocyte or WBC count at the time of diagnosis.

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How is XLA passed? ›

It follows what is called an X‐linked recessive pattern of inheritance with transfer of a defective gene on one of the two X chromosomes of a mother to a son. This means that for every boy that is conceived to a carrier mother there is a 50/50 chance that they will have XLA. This has implications for family planning.

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How to treat XLA? ›

People with XLA receive intravenous (through the vein) or subcutaneous (just under the skin) immunoglobulin regularly, as well as antibiotics to treat infections.

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What is the inheritance pattern of XLA? ›

Since XLA is an X-linked disorder, typically only boys are affected because they have only one X chromosome (XY). Girls can be carriers of the disorder because they have two X chromosomes. Carriers of XLA typically have no symptoms, but they have a 50% chance of transmitting the disease to each of their sons.

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What gender is X-linked agammaglobulinemia? ›

X-linked agammaglobulinemia is characterized by recurrent severe bacterial infections from the age of 6 to 12 months onward. Only boys are affected with recurrent otitis media, pneumonia, meningitis, and septic arthritis from extracellular encapsulated organisms such as S.

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Is X-linked agammaglobulinemia autoimmune? ›

Although relatively few patients with XLA reported a diagnosis of an autoimmune or auto-inflammatory disease, data from this survey indicates that a significant proportion of patients with XLA have symptoms that are clinically consistent with a diagnosis that suggests arthritis, Crohn's –like disease or other auto- ...

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What infections do patients with agammaglobulinemia get recurrent? ›

Hemophilus influenzae is the most common mucous- producing infection (pyogenic) that occurs in people with X-linked agammaglobulinemia. Children may also have repeated infections with pneumococci, streptococci, and staphylococci bacteria, and infrequently pseudomonas infections.

What is X-linked agammaglobulinemia complication? ›

Complications for patients with XLA include chronic sinopulmonary infections, enteroviral infections of the central nervous system, increased occurrence of autoimmune diseases, and skin infections.

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What are the features of XLA? ›

They usually lack or have very small tonsils. People with XLA have extremely low numbers of B cells, and blood tests will show extremely low levels of all types of immunoglobulins (antibodies). People with XLA fail to develop antibodies to specific germs and will not produce protective antibodies after immunizations.

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What is X-linked agammaglobulinemia characterized by? ›

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.

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What is the most common organism in X-linked agammaglobulinemia? ›

More than 50% of children with X-linked agammaglobulinemia have had serious infections within their first two years of life. Pyogenic encapsulated bacteria, such as Streptococcus pneumoniae and Haemophilus influenzae, are the most commonly isolated pathogens in patients with XLA.

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