Hereditary agammaglobulinaemia (HAG) is an inherited disorder caused by a genetic mutation in the BTK or CD79B gene. The mutation results in a deficiency or absence of B cells, which are responsible for making antibodies.
HAG is usually diagnosed based on clinical signs and symptoms, such as recurrent infections, low immunoglobulin levels, and B-cell deficiency. Genetic testing can also be used to confirm the diagnosis.
Common differential diagnoses for HAG include Common Variable Immunodeficiency (CVID), X-linked agammaglobulinemia, and primary immunodeficiency disorders.
Treatment of HAG typically involves regular infusions of immunoglobulin replacement therapy (IRT) and antimicrobial prophylaxis. Patients may also benefit from other treatments, such as antibiotics and immunomodulatory therapies.
The prognosis for patients with HAG is good. With proper treatment and management, patients can lead normal and healthy lives.