Lagammaglobulinémie

Lagammaglobulinémie, also known as agammaglobulinemia, is a group of rare genetic disorders characterized by a severe deficiency in the production of antibodies, also known as immunoglobulins. Antibodies are proteins produced by B cells that are crucial for fighting off infections. Individuals with lagammaglobulinémie have a significantly reduced ability to produce these protective antibodies, making them highly susceptible to recurrent bacterial, viral, and fungal infections.

There are several types of lagammaglobulinémie, with X-linked agammaglobulinemia (XLA) being the most common. XLA is caused by mutations in the BTK gene, which is essential for the development and function of B cells. Other forms, such as autosomal recessive agammaglobulinemia, are caused by mutations in different genes involved in B cell maturation. Symptoms typically appear in infancy, usually between six months and two years of age, as maternal antibodies begin to wane. Common infections include pneumonia, sinusitis, otitis media, and sepsis.

Diagnosis is made through blood tests that measure immunoglobulin levels, revealing very low or absent levels of IgG, IgA, and IgM. Genetic testing can confirm the specific mutation. Treatment involves lifelong immunoglobulin replacement therapy, where patients receive regular infusions of antibodies from healthy donors to supplement their own deficient production. Prompt diagnosis and consistent treatment are vital to prevent severe complications and improve the quality of life for individuals with lagammaglobulinémie.