Hypogammaglobulinaemia

Hypogammaglobulinaemia can be primary (congenital) or secondary. It can present in childhood and in adults, and can affect both sexes.

Primary hypogammaglobulinaemia may have a delay of several years between clinical presentation and diagnosis. The most common cause is common variable immunodeficiency.

Causes of secondary hypogammaglobulinaemia include gastrointestinal losses (e.g., malabsorption/protein-losing enteropathy), nephrotic syndrome, haematological malignancy, and medication (e.g., immunosuppressives, such as corticosteroids and chemotherapy).

Patients can be predisposed to recurrent upper and lower respiratory tract infections.

Treatment is tailored to specific causes and the clinical presentation of each patient, and includes intravenous or subcutaneous immunoglobulin replacement.

Severe combined immunodeficiency is a medical emergency and suspected cases require immediate specialist centre referral for diagnosis and treatment.

Hypogammaglobulinaemia is defined as reduced serum immunoglobulin (antibody) levels. This can be due to a variety of underlying primary/congenital intrinsic immune system defects (e.g., common variable immunodeficiency) or secondary immunodeficient states (e.g., medication-related, haematological malignancy, protein-losing diseases). The most commonly recognised clinical feature is recurrent infection.