Agammaglobulinémie liée à l’X (XLA)

Overview 

X-linked Agammaglobulinemia is a rare genetic immune disorder in which the body is unable to produce sufficient antibodies (immunoglobulins). This makes individuals highly susceptible to recurrent bacterial infections.

XLA primarily affects males and usually becomes evident in infancy after maternal antibodies decline. Early diagnosis and ongoing treatment are essential to prevent serious infections and complications.

Types of X-linked Agammaglobulinemia (XLA) Disease

• Classic XLA: Severe absence of B cells and antibodies
• Atypical XLA: Partial immune deficiency with milder symptoms

Symptoms of X-linked Agammaglobulinemia (XLA)

• Recurrent ear, sinus, and lung infections
• Frequent bacterial infections
• Poor response to vaccinations
• Chronic diarrhea
• Delayed growth
• Fatigue and weakness

Causes of X-linked Agammaglobulinemia (XLA)

• Mutation in the BTK (Bruton’s tyrosine kinase) gene
• X-linked genetic inheritance
• Failure of B-cell development
• Reduced or absent antibody production

Complications of X-linked Agammaglobulinemia (XLA)

• Severe or recurrent infections
• Chronic lung disease
• Sepsis
• Organ damage
• Reduced quality of life if untreated

Risk Factors of X-linked Agammaglobulinemia (XLA)

• Male gender (X-linked condition)
• Family history of immune disorders
• Genetic inheritance

Prevention of X-linked Agammaglobulinemia (XLA)

• Genetic counseling for families
• Early diagnosis in at-risk infants
• Preventive care to reduce infections