Conditions / Agammaglobulinemia
Agammaglobulinemia
Overview
Agammaglobulinemia is a rare, inherited immune disorder in which the body cannot produce enough antibodies (immunoglobulins), the proteins that help fight infections. This condition results from a defect in B cells—a type of white blood cell responsible for making antibodies—leaving individuals vulnerable to frequent and severe infections. The most common form is X-linked agammaglobulinemia (XLA), which primarily affects males and is usually diagnosed in early childhood. While there is no cure, lifelong treatment with antibody replacement therapy can significantly improve health and quality of life.
Symptoms
Symptoms of agammaglobulinemia typically begin in infancy, once maternal antibodies wear off. Common signs include:
• Frequent infections: Especially of the ears, sinuses, lungs (pneumonia), and gastrointestinal tract.
• Chronic diarrhea: Due to repeated intestinal infections.
• Skin infections: Including boils or abscesses.
• Slow recovery: Infections may take longer to heal and respond poorly to standard treatment.
• Swollen joints: Sometimes due to infection-related inflammation.
• Poor growth: In children, due to repeated illness and nutrient loss.
When to see a doctor
Seek medical advice if you or your child experiences:
• Recurring infections, especially those requiring antibiotics.
• Infections that are unusually severe or resistant to treatment.
• Poor growth or developmental delays.
• A family history of primary immunodeficiency.
Seek immediate care for:
• High fever with no clear source.
• Persistent vomiting or diarrhea.
• Signs of serious infections (e.g., difficulty breathing, stiff neck, or confusion).
Causes
Agammaglobulinemia is usually caused by a genetic mutation that prevents B cells from maturing and producing antibodies. The most common causes include:
• X-linked mutation: A defect in the BTK gene (Bruton tyrosine kinase), which is passed from mother to son.
• Autosomal recessive forms: Less common and can affect both males and females.
These mutations disrupt the immune system’s ability to defend against bacteria and some viruses.
Risk Factors
Factors that increase the risk of agammaglobulinemia include:
• Genetics: A family history of X-linked or inherited immune deficiencies.
• Sex: Males are more commonly affected in X-linked forms.
• Early childhood: Symptoms often appear within the first year of life.
Complications
If left untreated, agammaglobulinemia can lead to serious complications, such as:
• Chronic lung disease: From repeated respiratory infections (e.g., bronchiectasis).
• Meningitis or sepsis: Life-threatening infections due to poor immune defense.
• Autoimmune conditions: Some people may develop disorders where the immune system attacks the body.
• Growth and developmental delays: From chronic illness and poor nutrient absorption.
Mediacal Risk
While agammaglobulinemia is a lifelong condition, it can be managed effectively with early and consistent treatment. Standard management includes:
• Immunoglobulin replacement therapy: Given intravenously (IVIG) or subcutaneously (SCIG) to provide needed antibodies.
• Prompt treatment of infections: With antibiotics at the first sign of illness.
• Regular monitoring: With an immunologist to assess immune function and prevent complications.
• Avoidance of live vaccines: Which can be dangerous in people with weakened immune systems.
Potential risks and considerations include:
• Reactions to IVIG or SCIG: Such as headaches, fever, or allergic responses.
• Missed doses: Can lead to breakthrough infections or flare-ups.
• Undiagnosed family carriers: Genetic counseling is recommended for relatives.
With proper care and consistent treatment, many individuals with agammaglobulinemia can live full, active lives and experience significantly fewer infections.